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Abnormality of the eye

MedGen UID:
446358
Concept ID:
CN000446
Finding
Synonyms: Eye disease
 
HPO: HP:0000478

Definition

Any abnormality of the eye, including location, spacing, and intraocular abnormalities. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGAbnormality of the eye

Conditions with this feature

Lipid proteinosis
MedGen UID:
6112
Concept ID:
C0023795
Disease or Syndrome
Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).
Melkersson-Rosenthal syndrome
MedGen UID:
6291
Concept ID:
C0025235
Disease or Syndrome
A rare syndrome characterized by recurrent facial nerve paralysis, edema of the lips and face, and furrowed tongue.
Rett's disorder
MedGen UID:
48441
Concept ID:
C0035372
Disease or Syndrome
MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A MECP2 mutation in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 mutations are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males.
Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects.
Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called “chronic progressive external ophthalmoplegia plus,” or “CPEO+”).
Geleophysic dysplasia
MedGen UID:
78549
Concept ID:
C0265287
Congenital Abnormality
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1.
Idiopathic hypercalcemia of infancy
MedGen UID:
120608
Concept ID:
C0268080
Disease or Syndrome
Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011).
Cross syndrome
MedGen UID:
82811
Concept ID:
C0268496
Congenital Abnormality
A syndrome of gingival fibromatosis, pigmentation disorders, microphthalmia, and delayed psychomotor development. It was first observed in the Kramer family, hence the synonym Kramer syndrome.
Iminoglycinuria
MedGen UID:
124342
Concept ID:
C0268654
Congenital Abnormality
The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008). Iminoglycinuria may be more frequent in Ashkenazim than in others (Tancredi et al., 1970). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600).
Ascher's syndrome
MedGen UID:
137910
Concept ID:
C0339085
Disease or Syndrome
Lethal tight skin contracture syndrome
MedGen UID:
98356
Concept ID:
C0406585
Disease or Syndrome
Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by Smigiel et al., 2010).
Odontotrichomelic syndrome
MedGen UID:
98034
Concept ID:
C0406723
Congenital Abnormality
The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.
Otospondylomegaepiphyseal dysplasia
MedGen UID:
140925
Concept ID:
C0432210
Congenital Abnormality
Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. People with OSMED are often shorter than average because the bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Virtually all affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of OSMED tend to diminish during childhood, but other signs and symptoms, such as hearing loss and joint pain, persist into adulthood.
Familial focal facial dermal dysplasia
MedGen UID:
98155
Concept ID:
C0432353
Disease or Syndrome
The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Cervantes-Barragan et al. (2011) proposed a classification of FFDD in which there are 4 subtypes. FFDD1 (Brauer syndrome) is characterized by temporal skin depressions that resemble 'forceps marks.' Other facial anomalies, comprising sparse lateral eyebrows, distichiasis, and a flattened nasal tip, are usually mild. Inheritance is autosomal dominant. FFFD2 (Brauer-Setleis syndrome; 614973) is characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. Inheritance is autosomal dominant. FFDD3 (Setleis syndrome; 227260) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive. FFDD4 (614974) is characterized by isolated, preauricular skin lesions with autosomal dominant or recessive inheritance (summary by Slavotinek et al., 2013). Genetic Heterogeneity of Focal Facial Dermal Dysplasia FFDD3 (227260) is caused by mutation in the TWIST2 gene (607556) on chromosome 2q37. FFDD4 (614974) is caused by mutation in the CYP26C1 gene on chromosome 10q23.
Chylomicron retention disease
MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).
Ocular cicatricial pemphigoid
MedGen UID:
266181
Concept ID:
C1282359
Disease or Syndrome
A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness.
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma
MedGen UID:
231158
Concept ID:
C1321495
Congenital Abnormality
Laryngoonychocutaneous syndrome
MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury. One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood. In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth. Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities. LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.
Spinal arachnoiditis
MedGen UID:
318191
Concept ID:
C1710146
Disease or Syndrome
A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.
Prepapillary vascular loop
MedGen UID:
316814
Concept ID:
C1828066
Congenital Abnormality
Hereditary congenital facial paresis 1
MedGen UID:
371292
Concept ID:
C1832284
Disease or Syndrome
Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII). HCFP is considered to be distinct from Moebius syndrome (157900), which shares some of the same clinical features. Genetic Heterogeneity of Hereditary Congenital Facial Paresis One locus for HCFP (HCFP1) has been mapped to chromosome 3q. Another locus (HCFP2; 604185) has been mapped to chromosome 10q. HCFP3 (614744) is caused by mutation in the HOXB1 gene (142968) on chromosome 17q21.
Deafness, autosomal recessive 12
MedGen UID:
330455
Concept ID:
C1832394
Disease or Syndrome
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
MedGen UID:
371322
Concept ID:
C1832411
Disease or Syndrome
Congenital disorder of glycosylation type 1D
MedGen UID:
322026
Concept ID:
C1832736
Disease or Syndrome
Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.
Setting-sun phenomenon, familial benign
MedGen UID:
318913
Concept ID:
C1833577
Disease or Syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MedGen UID:
371830
Concept ID:
C1834478
Disease or Syndrome
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood. An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein and/or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). Some affected individuals develop cataracts in early adulthood that worsen over time. Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.
Myelinated optic nerve fibers
MedGen UID:
320388
Concept ID:
C1834600
Finding
Mydriatic response to pharmacologic agents
MedGen UID:
322458
Concept ID:
C1834634
Finding
Forney Robinson Pascoe syndrome
MedGen UID:
331835
Concept ID:
C1834818
Disease or Syndrome
Cutaneous malignant melanoma 1
MedGen UID:
320506
Concept ID:
C1835047
Finding
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma Other familial cutaneous malignant melanoma susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p14-p12; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, and BAP1 (603089). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003).
Levator-medial rectus synkinesis
MedGen UID:
320592
Concept ID:
C1835403
Disease or Syndrome
Kanzaki disease
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Congenital disorder of glycosylation type 1F
MedGen UID:
322968
Concept ID:
C1836669
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
Sudden infant death with dysgenesis of the testes syndrome
MedGen UID:
332428
Concept ID:
C1837371
Disease or Syndrome
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal. SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx). The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).
Congenital disorder of glycosylation type 1E
MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
PARC syndrome
MedGen UID:
373923
Concept ID:
C1838256
Disease or Syndrome
Fryns macrocephaly
MedGen UID:
373933
Concept ID:
C1838281
Disease or Syndrome
BOR-Duane hydrocephalus contiguous gene syndrome
MedGen UID:
333071
Concept ID:
C1838346
Disease or Syndrome
Unique green phenomenon
MedGen UID:
326816
Concept ID:
C1839116
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome
MedGen UID:
375070
Concept ID:
C1843004
Disease or Syndrome
Charcot-Marie-Tooth disease type 2J
MedGen UID:
375107
Concept ID:
C1843153
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.
Minicore myopathy, antenatal onset, with arthrogryposis
MedGen UID:
334470
Concept ID:
C1843691
Disease or Syndrome
Multiminicore disease (MmD) is broadly classified into four groups: Classic form (75% of individuals). Moderate form, with hand involvement (<10%). Antenatal form, with arthrogryposis multiplex congenita (<10%). Ophthalmoplegic form (<10%). Onset of the classic form is usually congenital or early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement (often with secondary cardiac impairment). Spinal rigidity of varying severity is present.
Dermoids of cornea
MedGen UID:
375481
Concept ID:
C1844671
Disease or Syndrome
Albinism deafness syndrome
MedGen UID:
375573
Concept ID:
C1845068
Disease or Syndrome
Infantile-onset ascending hereditary spastic paralysis
MedGen UID:
335467
Concept ID:
C1846588
Disease or Syndrome
ALS2-related disorders involve retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprise a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile forms without lower motor neuron involvement (juvenile primary lateral sclerosis [JPLS]) to forms with lower motor neuron involvement (autosomal recessive juvenile amyotrophic lateral sclerosis [JALS]). IAHSP is characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome. JPLS is characterized by onset and loss of ability to walk during the second year of life, progressive signs of upper motor neuron disease, wheelchair dependence by adolescence, and later loss of motor speech production. JALS is characterized by onset during childhood (mean age of onset 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, inconstant moderate muscle atrophy, bladder dysfunction, and sensory disturbances; some individuals are bedridden by age 12 to 50 years.
Brachyolmia type 1 Hobaek type
MedGen UID:
338605
Concept ID:
C1849055
Disease or Syndrome
Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; 271630) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; 613678), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; 113500) is an autosomal dominant form, caused by mutation in the TRPV4 gene (605427), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; 612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes.
Sjogren-Larsson-like syndrome
MedGen UID:
336532
Concept ID:
C1849195
Disease or Syndrome
Nemaline myopathy 2
MedGen UID:
342534
Concept ID:
C1850569
Disease or Syndrome
Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. The clinical classification defines six forms of NM, which are classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%) . Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. There are significant differences in survival between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk.
Epiblepharon of upper lid
MedGen UID:
338730
Concept ID:
C1851582
Disease or Syndrome
Deafness enamel hypoplasia nail defects
MedGen UID:
343498
Concept ID:
C1856186
Disease or Syndrome
Skin/hair/eye pigmentation, variation in, 1
MedGen UID:
347326
Concept ID:
C1856895
Finding
Genetic Heterogeneity of Variation in Skin/Hair/Eye Pigmentation Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (266300) is determined by variation at the MC1R locus (155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (601800) encompasses pigment variation influenced by the TYR gene (606933); SHEP4 (113750), that influenced by the SLC24A5 gene (609802). Variation in the SLC45A2 (606202) and SLC24A4 (609840) genes result in the phenotypic associations SHEP5 (227240) and SHEP6 (210750), respectively. Sequence variation thought to affect expression of KITLG (184745) results in the SHEP7 (611664) phenotypic association. SHEP8 (611724) is associated with variation in the IRF4 gene (601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (600201) influences the SHEP9 association (611742). The SHEP10 association (612267) comprises variation in the TPCN2 gene (612163), and SHEP11 (612271) is associated with polymorphism near the TYRP1 gene (115501).
Schopf-Schulz-Passarge syndrome
MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
Stickler syndrome, type 3
MedGen UID:
349293
Concept ID:
C1861481
Congenital Abnormality
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
Disease or Syndrome
Peroxisome Biogenesis Disorder, Complementation Group K
MedGen UID:
356487
Concept ID:
C1866257
Disease or Syndrome
Iris pigment epithelium anomalies
MedGen UID:
357091
Concept ID:
C1866608
Disease or Syndrome
Rombo syndrome
MedGen UID:
356704
Concept ID:
C1867147
Disease or Syndrome
Egg shaped pupils
MedGen UID:
357979
Concept ID:
C1867405
Disease or Syndrome
Dysgnathia complex
MedGen UID:
362639
Concept ID:
C1876185
Disease or Syndrome
Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having “microform” HPE.
Gaucher's disease, type 1
MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Plasminogen deficiency, type I
MedGen UID:
369859
Concept ID:
C1968804
Disease or Syndrome
Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic muscosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).
Tented eyebrows
MedGen UID:
370710
Concept ID:
C1969624
Disease or Syndrome
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and manifest as intracardiac obstruction of blood flow, embolic phenomena, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in almost all adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.
Skin/hair/eye pigmentation, variation in, 5
MedGen UID:
382137
Concept ID:
C2673584
Disease or Syndrome
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.
Hereditary sensory and autonomic neuropathy type IIA
MedGen UID:
416701
Concept ID:
C2752089
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Spinocerebellar degeneration with slow eye movements
MedGen UID:
419522
Concept ID:
C2931904
Disease or Syndrome
Spondyloepiphyseal dysplasia Maroteaux type
MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
MedGen UID:
766918
Concept ID:
C3554004
Disease or Syndrome
Xeroderma pigmentosum, group F
MedGen UID:
120612
Concept ID:
C0268140
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); and Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).

Recent clinical studies

Etiology

Prickett AL, Bui K, Hallak J, Bakhtiyari P, de la Cruz J, Azar DT, Chamon W
Br J Ophthalmol 2015 Jan;99(1):49-53. Epub 2014 Aug 12 doi: 10.1136/bjophthalmol-2014-304975. [Epub ahead of print] PMID: 25122544
Han JW, Yoon JS, Jang SY
Eye (Lond) 2014 Oct;28(10):1212-7. Epub 2014 Aug 1 doi: 10.1038/eye.2014.174. [Epub ahead of print] PMID: 25081289Free PMC Article
Yi L, Fan Y, Quinn PC, Feng C, Huang D, Li J, Mao G, Lee K
J Vis 2013 Aug 8;13(10) doi: 10.1167/13.10.5. PMID: 23929830Free PMC Article
Kim JH, Park BL, Pasaje CF, Bae JS, Park CS, Cha B, Kim BJ, Lee M, Choi WH, Shin TM, Choi IG, Hwang J, Koh I, Woo SI, Shin HD
J Mol Neurosci 2012 Mar;46(3):476-82. Epub 2011 Aug 20 doi: 10.1007/s12031-011-9619-y. [Epub ahead of print] PMID: 21858616
Pasaje CF, Bae JS, Park BL, Cheong HS, Kim JH, Park TJ, Lee JS, Kim Y, Park CS, Kim BJ, Cha B, Kim JW, Choi WH, Shin TM, Choi IG, Hwang J, Shin HD, Woo SI
Genes Brain Behav 2011 Nov;10(8):828-33. Epub 2011 Aug 9 doi: 10.1111/j.1601-183X.2011.00722.x. [Epub ahead of print] PMID: 21762460

Diagnosis

Prickett AL, Bui K, Hallak J, Bakhtiyari P, de la Cruz J, Azar DT, Chamon W
Br J Ophthalmol 2015 Jan;99(1):49-53. Epub 2014 Aug 12 doi: 10.1136/bjophthalmol-2014-304975. [Epub ahead of print] PMID: 25122544
Kaido M, Uchino M, Yokoi N, Uchino Y, Dogru M, Kawashima M, Komuro A, Sonomura Y, Kato H, Kinoshita S, Tsubota K
Invest Ophthalmol Vis Sci 2014 May 6;55(5):3275-81. doi: 10.1167/iovs.13-13000. PMID: 24801509
Han SY, Hwang YH
Semin Ophthalmol 2014 May;29(3):172-4. Epub 2013 Oct 29 doi: 10.3109/08820538.2013.839815. [Epub ahead of print] PMID: 24168157
Jang SY, Lee SY, Yoon JS
Br J Ophthalmol 2013 Apr;97(4):398-402. Epub 2013 Jan 15 doi: 10.1136/bjophthalmol-2012-302404. [Epub ahead of print] PMID: 23322882
Pasaje CF, Bae JS, Park BL, Cheong HS, Kim JH, Park TJ, Lee JS, Kim Y, Park CS, Kim BJ, Cha B, Kim JW, Choi WH, Shin TM, Choi IG, Hwang J, Shin HD, Woo SI
Genes Brain Behav 2011 Nov;10(8):828-33. Epub 2011 Aug 9 doi: 10.1111/j.1601-183X.2011.00722.x. [Epub ahead of print] PMID: 21762460

Therapy

Prickett AL, Bui K, Hallak J, Bakhtiyari P, de la Cruz J, Azar DT, Chamon W
Br J Ophthalmol 2015 Jan;99(1):49-53. Epub 2014 Aug 12 doi: 10.1136/bjophthalmol-2014-304975. [Epub ahead of print] PMID: 25122544
Han JW, Yoon JS, Jang SY
Eye (Lond) 2014 Oct;28(10):1212-7. Epub 2014 Aug 1 doi: 10.1038/eye.2014.174. [Epub ahead of print] PMID: 25081289Free PMC Article
Evans KK, Georgian-Smith D, Tambouret R, Birdwell RL, Wolfe JM
Psychon Bull Rev 2013 Dec;20(6):1170-5. doi: 10.3758/s13423-013-0459-3. PMID: 23771399Free PMC Article
Jang SY, Lee SY, Yoon JS
Br J Ophthalmol 2013 Apr;97(4):398-402. Epub 2013 Jan 15 doi: 10.1136/bjophthalmol-2012-302404. [Epub ahead of print] PMID: 23322882
Kocaçal Güler E, Eşer I, Eğrilmez S
J Clin Nurs 2011 Jul;20(13-14):1916-22. Epub 2011 Mar 17 doi: 10.1111/j.1365-2702.2010.03559.x. [Epub ahead of print] PMID: 21414053

Prognosis

Koehler PJ, Wijdicks EF
J Neurosurg 2015 Feb;122(2):453-63. Epub 2014 Nov 21 doi: 10.3171/2014.10.JNS14148. [Epub ahead of print] PMID: 25415062
Kaido M, Uchino M, Yokoi N, Uchino Y, Dogru M, Kawashima M, Komuro A, Sonomura Y, Kato H, Kinoshita S, Tsubota K
Invest Ophthalmol Vis Sci 2014 May 6;55(5):3275-81. doi: 10.1167/iovs.13-13000. PMID: 24801509
Wang JJ, Fong CS, Rochtchina E, Cugati S, de Loryn T, Kaushik S, Tan JS, Arnold J, Smith W, Mitchell P
Ophthalmology 2012 Nov;119(11):2298-303. Epub 2012 Sep 5 doi: 10.1016/j.ophtha.2012.07.003. [Epub ahead of print] PMID: 22959104
Jiang X, Varma R, Wu S, Torres M, Azen SP, Francis BA, Chopra V, Nguyen BB; Los Angeles Latino Eye Study Group
Ophthalmology 2012 Nov;119(11):2245-53. Epub 2012 Jul 12 doi: 10.1016/j.ophtha.2012.05.030. [Epub ahead of print] PMID: 22796305Free PMC Article
Varma R, Wang D, Wu C, Francis BA, Nguyen BB, Chopra V, Memarzadeh F, Torres M, Azen SP; Los Angeles Latino Eye Study Group
Am J Ophthalmol 2012 Aug;154(2):315-325.e1. Epub 2012 Apr 27 doi: 10.1016/j.ajo.2012.02.014. [Epub ahead of print] PMID: 22541649Free PMC Article

Clinical prediction guides

Koehler PJ, Wijdicks EF
J Neurosurg 2015 Feb;122(2):453-63. Epub 2014 Nov 21 doi: 10.3171/2014.10.JNS14148. [Epub ahead of print] PMID: 25415062
Prickett AL, Bui K, Hallak J, Bakhtiyari P, de la Cruz J, Azar DT, Chamon W
Br J Ophthalmol 2015 Jan;99(1):49-53. Epub 2014 Aug 12 doi: 10.1136/bjophthalmol-2014-304975. [Epub ahead of print] PMID: 25122544
Han JW, Yoon JS, Jang SY
Eye (Lond) 2014 Oct;28(10):1212-7. Epub 2014 Aug 1 doi: 10.1038/eye.2014.174. [Epub ahead of print] PMID: 25081289Free PMC Article
Yi L, Fan Y, Quinn PC, Feng C, Huang D, Li J, Mao G, Lee K
J Vis 2013 Aug 8;13(10) doi: 10.1167/13.10.5. PMID: 23929830Free PMC Article
Pasaje CF, Bae JS, Park BL, Cheong HS, Kim JH, Park TJ, Lee JS, Kim Y, Park CS, Kim BJ, Cha B, Kim JW, Choi WH, Shin TM, Choi IG, Hwang J, Shin HD, Woo SI
Genes Brain Behav 2011 Nov;10(8):828-33. Epub 2011 Aug 9 doi: 10.1111/j.1601-183X.2011.00722.x. [Epub ahead of print] PMID: 21762460

Recent systematic reviews

Shields JA, Shields CL
Ophthalmology 2015 Feb;122(2):414-28. Epub 2014 Oct 14 doi: 10.1016/j.ophtha.2014.08.046. [Epub ahead of print] PMID: 25439609
Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E
BMC Med Genet 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82. [Epub ahead of print] PMID: 25030379Free PMC Article
Ober MD, Freund KB, Shah M, Ahmed S, Mahmoud TH, Aaberg TM Jr, Zacks DN, Gao H, Mukkamala K, Desai U, Packo KH, Yannuzzi LA
Ophthalmology 2014 Jul;121(7):1406-13. Epub 2014 Mar 22 doi: 10.1016/j.ophtha.2014.02.002. [Epub ahead of print] PMID: 24661864
Yeh SI, Chang WC, Wu CH, Lan YW, Hsieh JW, Tsai S, Chen LJ
Ophthalmology 2013 Mar;120(3):544-52. Epub 2012 Dec 1 doi: 10.1016/j.ophtha.2012.08.028. [Epub ahead of print] PMID: 23207174
Ang GS, Stevenson PJ, Sargent G, Grimmer P, Corbett P, Jourdain E, Wells AP
Clin Experiment Ophthalmol 2013 May-Jun;41(4):360-7. Epub 2012 Oct 29 doi: 10.1111/j.1442-9071.2012.02874.x. [Epub ahead of print] PMID: 22958266

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