Format

Send to:

Choose Destination

Abnormality of the skin

MedGen UID:
11449
Concept ID:
C0037268
Disease or Syndrome; Finding
Synonyms: Abnormalities, Skin; Abnormality, Skin; Skin Abnormalities; Skin Abnormality
SNOMED CT: Congenital anomaly of skin (199879009); Congenital cutaneous anomaly (199879009); Congenital malformation of the skin (199879009); Congenital skin anomalies (199879009)
 
HPO: HP:0000951

Definition

An abnormality of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the skin

Conditions with this feature

Chylous ascites
MedGen UID:
969
Concept ID:
C0008732
Disease or Syndrome
Extravasation of chyle into the peritoneal cavity.
Dermatosis papulosa nigra
MedGen UID:
4238
Concept ID:
C0011645
Neoplastic Process
A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.
Progressive myositis ossificans
MedGen UID:
4698
Concept ID:
C0016037
Disease or Syndrome
Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009).
Neuropathy hereditary sensory and autonomic type 1
MedGen UID:
5645
Concept ID:
C0020071
Disease or Syndrome
Hereditary sensory neuropathy type IA (HSN1A) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. HSN1A is often associated with progressive sensorineural deafness. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles so that a person in his/her 60s or 70s may require a wheelchair for mobility. Drenching sweating of the hands and feet is sometimes reported and occasionally pupillary abnormalities are observed; however, visceral signs of autonomic involvement are rare.
Familial hypercholesterolemia
MedGen UID:
5688
Concept ID:
C0020445
Disease or Syndrome
Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).
Klippel Trenaunay syndrome
MedGen UID:
9646
Concept ID:
C0022739
Congenital Abnormality
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).Other complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).
Lentigines
MedGen UID:
7301
Concept ID:
C0023321
Disease or Syndrome
Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).
Lipid proteinosis
MedGen UID:
6112
Concept ID:
C0023795
Disease or Syndrome
Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extra cutaneous manifestations may include epilepsy, neuropsychiatric disorders, and spontaneous CNS hemorrhage. Males and females are affected equally. Generally, the disease course is chronic and fluctuating. Affected individuals have a normal life span unless they experience laryngeal obstruction.
Lipomatosis familial benign cervical
MedGen UID:
7349
Concept ID:
C0023804
Neoplastic Process
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level (summary by Enzi et al., 2002).
Maffucci syndrome
MedGen UID:
7437
Concept ID:
C0024454
Disease or Syndrome
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease (166000) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Multiple endocrine neoplasia, type 2b
MedGen UID:
9959
Concept ID:
C0025269
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a ‘marfanoid’ habitus. MTC typically occurs in early childhood in MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.
Periodontitis, aggressive, 1
MedGen UID:
10661
Concept ID:
C0031106
Disease or Syndrome
Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting (American Academy of Periodontology, 2000). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression (Armitage, 1999). Genetic Heterogeneity of Aggressive Periodontitis Aggressive periodontitis-2 (608526) has been mapped to chromosome 1q25.
Cyst - pilonidal
MedGen UID:
19314
Concept ID:
C0031925
Finding
A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.
Prune belly syndrome
MedGen UID:
18718
Concept ID:
C0033770
Congenital Abnormality
In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Myxoid liposarcoma
MedGen UID:
104903
Concept ID:
C0206634
Neoplastic Process
Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by Dei Tos, 2000).
Hyperkeratosis follicularis in cutem penetrans
MedGen UID:
75516
Concept ID:
C0263382
Disease or Syndrome
Pigmented purpuric lichenoid dermatitis of Gougerot and Blum
MedGen UID:
82665
Concept ID:
C0263396
Disease or Syndrome
Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Congenital Abnormality
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Farber lipogranulomatosis
MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013).
Marfanoid joint hypermobility syndrome
MedGen UID:
120632
Concept ID:
C0268365
Disease or Syndrome
Familial amyloid nephropathy with urticaria AND deafness
MedGen UID:
120634
Concept ID:
C0268390
Disease or Syndrome
Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features.
Bullous cutaneous amyloidosis
MedGen UID:
78672
Concept ID:
C0268399
Disease or Syndrome
Tyrosinemia type 2
MedGen UID:
75687
Concept ID:
C0268487
Disease or Syndrome
Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).
Vitamin D-dependent rickets, type 2
MedGen UID:
75706
Concept ID:
C0268690
Disease or Syndrome
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Tinea kerion
MedGen UID:
124446
Concept ID:
C0276742
Disease or Syndrome
An inflammatory manifestation of tinea capitis with a pronounced swelling that develops into suppurative central and indurated peripheral area called kerion.
Progressive osseous heteroplasia
MedGen UID:
137714
Concept ID:
C0334041
Neoplastic Process
Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994). The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP.
Choanal atresia with radial ray hypoplasia
MedGen UID:
83297
Concept ID:
C0339838
Disease or Syndrome
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
MedGen UID:
83338
Concept ID:
C0342287
Congenital Abnormality
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia is between infancy and adolescence. The anemia is corrected with pharmacologic doses of thiamine (vitamin B1) (25-75 mg/day compared to US RDA of 1.5 mg/day). However, the red cells remain macrocytic. The anemia can recur when thiamine is withdrawn. Progressive sensorineural hearing loss has generally been early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence.
Familial dyskeratotic comedones
MedGen UID:
138018
Concept ID:
C0345424
Neoplastic Process
Multiple fibrofolliculomas
MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations.
Anaphylotoxin inactivator deficiency
MedGen UID:
98312
Concept ID:
C0398782
Disease or Syndrome
Pseudoatrophoderma colli
MedGen UID:
96061
Concept ID:
C0406561
Disease or Syndrome
Otospondylomegaepiphyseal dysplasia
MedGen UID:
140925
Concept ID:
C0432210
Congenital Abnormality
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).
Michelin-tire baby
MedGen UID:
96881
Concept ID:
C0473586
Disease or Syndrome
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin Creases CSCSC2 (616734) is caused by mutation in the MAPRE1 gene (603108) on chromosome 18q12.
Multiple self healing squamous epithelioma
MedGen UID:
154270
Concept ID:
C0546476
Disease or Syndrome
Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980).
Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
MedGen UID:
167083
Concept ID:
C0795915
Disease or Syndrome
Curry-Jones syndrome is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
266127
Concept ID:
C1272305
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Hereditary neurocutaneous angiomata
MedGen UID:
226898
Concept ID:
C1275084
Neoplastic Process
Deficiency of hyaluronoglucosaminidase
MedGen UID:
226942
Concept ID:
C1291490
Disease or Syndrome
Congenital fascial dystrophy
MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality
Schwannomatosis
MedGen UID:
234775
Concept ID:
C1335929
Neoplastic Process
Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis II (NF2; 101000). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012). Genetic Heterogeneity of Schwannomatosis See also schwannomatosis-2 (615670), conferred by germline heterozygous mutation in the LZTR1 gene (600574) on chromosome 22q11. Individual schwannoma tumors from patients with schwannomatosis have been found to harbor somatic mutations in SMARCB1 or the neurofibromin-2 gene (NF2; 607379).
Atrophia maculosa varioliformis cutis, familial
MedGen UID:
371334
Concept ID:
C1832465
Disease or Syndrome
Dermoid cysts, familial frontonasal
MedGen UID:
371575
Concept ID:
C1833473
Disease or Syndrome
Noduli cutanei, multiple, with urinary tract abnormalities
MedGen UID:
371746
Concept ID:
C1834143
Disease or Syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
MedGen UID:
371972
Concept ID:
C1835087
Disease or Syndrome
Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007).
Lip, median nodule of upper
MedGen UID:
372034
Concept ID:
C1835396
Disease or Syndrome
Lichen planus, familial
MedGen UID:
372036
Concept ID:
C1835402
Disease or Syndrome
Lentiginosis, centrofacial neurodysraphic
MedGen UID:
372055
Concept ID:
C1835484
Disease or Syndrome
Leg ulcers, familial, of juvenile onset
MedGen UID:
322673
Concept ID:
C1835489
Disease or Syndrome
Keratosis palmoplantaris papulosa
MedGen UID:
372099
Concept ID:
C1835662
Disease or Syndrome
Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by Giehl et al., 2012). Another form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; 614936). Other forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; 175860) and focal acrohyperkeratosis (PPKP3; 101850). For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).
Keratosis palmaris et plantaris with clinodactyly
MedGen UID:
320656
Concept ID:
C1835663
Disease or Syndrome
Ichthyosis with hypotrichosis, autosomal recessive
MedGen UID:
332073
Concept ID:
C1835851
Disease or Syndrome
AICAR transformylase/IMP cyclohydrolase deficiency
MedGen UID:
332474
Concept ID:
C1837530
Disease or Syndrome
Ulnar/fibular ray defect and brachydactyly
MedGen UID:
324890
Concept ID:
C1837830
Disease or Syndrome
Prieto X-linked mental retardation syndrome
MedGen UID:
374294
Concept ID:
C1839730
Disease or Syndrome
Mental retardation syndrome with facial abnormalities, subcortical cerebral atrophy, defective tooth development, skin dimples at the lower back, lower limb defects, clinodactyly, luxation of the patella, and eye abnormalities.
Miles-Carpenter X-linked mental retardation syndrome
MedGen UID:
374295
Concept ID:
C1839735
Disease or Syndrome
Insect stings, hypersensitivity to
MedGen UID:
327045
Concept ID:
C1840171
Finding
Single upper central incisor
MedGen UID:
326686
Concept ID:
C1840235
Disease or Syndrome
The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.
Hyperlipoproteinemia, type II, and deafness
MedGen UID:
326732
Concept ID:
C1840425
Disease or Syndrome
Histiocytosis, progressive mucinous
MedGen UID:
326771
Concept ID:
C1840586
Disease or Syndrome
Uric acid concentration, serum, quantitative trait locus 1
MedGen UID:
330702
Concept ID:
C1841837
Finding
Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait Loci See also UAQTL2 (see 612076), conferred by variation in the SLC2A9 gene (606142) on chromosome 4p; UAQTL4 (612671), conferred by variation in the SLC17A3 gene (611034) on chromosome 6p21; UAQTL5 (614746), associated with a SNP on chromosome 19q13; and UAQTL6 (614747), associated with a SNP on chromosome 1.
Glomuvenous malformations
MedGen UID:
374834
Concept ID:
C1841984
Disease or Syndrome
Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations.
Severe congenital neutropenia X-linked
MedGen UID:
335314
Concept ID:
C1845987
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
Armfield X-linked mental retardation syndrome
MedGen UID:
375800
Concept ID:
C1846057
Disease or Syndrome
Spinocerebellar ataxia autosomal recessive 5
MedGen UID:
376048
Concept ID:
C1847114
Disease or Syndrome
Prenatal bowing
MedGen UID:
337891
Concept ID:
C1849701
Congenital Abnormality
Hard skin syndrome Parana type
MedGen UID:
337964
Concept ID:
C1850079
Disease or Syndrome
Futcher line
MedGen UID:
338163
Concept ID:
C1850937
Anatomical Abnormality
Flushing of ears and somnolence
MedGen UID:
340685
Concept ID:
C1851055
Disease or Syndrome
Lehman syndrome
MedGen UID:
342070
Concept ID:
C1851710
Disease or Syndrome
Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).
Ectrodactyly-cleft palate syndrome
MedGen UID:
342105
Concept ID:
C1851848
Disease or Syndrome
Dermatoglyphics--fingerprint pattern
MedGen UID:
342171
Concept ID:
C1852156
Disease or Syndrome
Dermal ridges, patternless
MedGen UID:
343736
Concept ID:
C1852160
Disease or Syndrome
Dermal ridges, nelson syndrome
MedGen UID:
377606
Concept ID:
C1852161
Disease or Syndrome
Hamartoma, precalcaneal congenital fibrolipomatous
MedGen UID:
342846
Concept ID:
C1853298
Disease or Syndrome
Roy Maroteaux Kremp syndrome
MedGen UID:
343282
Concept ID:
C1855164
Disease or Syndrome
Gingival fibromatosis with distinctive facies
MedGen UID:
346437
Concept ID:
C1856761
Disease or Syndrome
Digitorenocerebral syndrome
MedGen UID:
387800
Concept ID:
C1857345
Disease or Syndrome
TBC1D24-related disorders comprise a continuum that includes the following recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures): profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability/developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME): early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME): action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16): epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86: profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65: slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.
Contractures, congenital, torticollis, and malignant hyperthermia
MedGen UID:
347490
Concept ID:
C1857576
Disease or Syndrome
Collagenosis, familial reactive perforating
MedGen UID:
347504
Concept ID:
C1857624
Disease or Syndrome
Circumvallate placenta syndrome
MedGen UID:
347062
Concept ID:
C1859089
Disease or Syndrome
Bone dysplasia lethal Holmgren type
MedGen UID:
347872
Concept ID:
C1859407
Disease or Syndrome
Ataxia, deafness and cardiomyopathy
MedGen UID:
395312
Concept ID:
C1859645
Disease or Syndrome
Arteriosclerosis, severe juvenile
MedGen UID:
395330
Concept ID:
C1859725
Disease or Syndrome
Syringomas, multiple
MedGen UID:
348321
Concept ID:
C1861302
Neoplastic Process
Cerebral cavernous malformation
MedGen UID:
349362
Concept ID:
C1861784
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.
Callosities, hereditary painful
MedGen UID:
349400
Concept ID:
C1861964
Disease or Syndrome
Acromial dimples
MedGen UID:
354954
Concept ID:
C1863321
Disease or Syndrome
Acromial dimples are skin depressions overlying the acromial process of the scapula. They are thought to arise from the entrapment of tissue between a bony structure and the uterine wall. The skin and bone become compressed and tethering results when the pressure is released. They are usually bilateral and are an isolated finding warranting no further investigation (summary by Liu and Nanan, 2008). Acromial dimples occur as a virtually consistent feature of 18q deletion (Insley, 1967).
Trichilemmal cyst 1
MedGen UID:
351222
Concept ID:
C1864801
Disease or Syndrome
Trichilemmal cysts, also known as pilar cysts or tricholemmal cysts, are derived from the outer root sheath of the deeper parts of a hair follicle and consist of a well-keratinized epidermal wall surrounding semisolid hair keratin. They occur predominantly on the scalp, are easily enucleated, and appear as a firm, smooth, white-walled cyst without a punctum (McGavran and Binnington, 1966; Pinkus, 1969; Leppard and Sanderson, 1976).
Tumoral calcinosis, familial, normophosphatemic
MedGen UID:
355311
Concept ID:
C1864861
Disease or Syndrome
Spondyloepimetaphyseal dysplasia Genevieve type
MedGen UID:
355314
Concept ID:
C1864872
Disease or Syndrome
Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016).
Sebaceous gland hyperplasia, familial presenile
MedGen UID:
356529
Concept ID:
C1866428
Disease or Syndrome
Sebaceous gland hyperplasia presents as one or more elevated, soft, yellow papules with central umbilication on the face, particularly the forehead. Lesions may spread to the neck and upper part of the thorax. Sebaceous gland hyperplasia occurs frequently in older individuals, particularly in men past middle age (Nomland, 1930). A premature form has its appearance during puberty or just afterwards, male predominance, and excessive sebaceous secretion. Most cases are sporadic (summary by Boonchai and Leenutaphong, 1997).
Spondyloepimetaphyseal dysplasia with abnormal dentition
MedGen UID:
356550
Concept ID:
C1866507
Disease or Syndrome
Splenogonadal fusion limb defects micrognatia
MedGen UID:
401073
Concept ID:
C1866745
Disease or Syndrome
Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003).
Simosa cranio facial syndrome
MedGen UID:
356655
Concept ID:
C1866962
Disease or Syndrome
Say syndrome
MedGen UID:
357895
Concept ID:
C1867023
Disease or Syndrome
Pseudoxanthoma elasticum, forme fruste
MedGen UID:
357280
Concept ID:
C1867450
Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals most commonly present with papules in the skin and/or with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Rarely, individuals may present with vascular signs and symptoms, such as gastrointestinal bleeding, angina, or intermittent claudication. The most frequent cause of morbidity and disability in PXE is reduced vision from macular hemorrhage and disciform scarring of the macula. Most affected individuals live a normal life span.
Absent patella
MedGen UID:
358246
Concept ID:
C1868577
Finding
Absence or underdevelopment of the patella.
Florid papillomatosis of the nipple
MedGen UID:
401492
Concept ID:
C1868647
Neoplastic Process
A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.
Nasopalpebral lipoma coloboma syndrome
MedGen UID:
358378
Concept ID:
C1868660
Disease or Syndrome
Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).
Tumoral calcinosis, familial, hyperphosphatemic
MedGen UID:
360297
Concept ID:
C1876187
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).
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 mucosal 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).
Osteogenesis imperfecta type 6
MedGen UID:
369725
Concept ID:
C1970413
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).
Keratosis, familial actinic
MedGen UID:
390709
Concept ID:
C2675099
Disease or Syndrome
Hypercarotenemia and vitamin a deficiency, autosomal dominant
MedGen UID:
393944
Concept ID:
C2676023
Disease or Syndrome
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
MedGen UID:
416522
Concept ID:
C2751313
Disease or Syndrome
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
MedGen UID:
462826
Concept ID:
C3151476
Disease or Syndrome
Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by Rouzier et al., 2010). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).
Amelogenesis imperfecta, type IA
MedGen UID:
97992
Concept ID:
C0399367
Congenital Abnormality
Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989).
Microspherophakia
MedGen UID:
288328
Concept ID:
C1562061
Disease or Syndrome
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).
Hypotrichosis 7
MedGen UID:
322969
Concept ID:
C1836672
Disease or Syndrome
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
Ectodermal dysplasia 7, hair/nail type
MedGen UID:
767031
Concept ID:
C3554117
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.
HYPOTRICHOSIS 12
MedGen UID:
863000
Concept ID:
C4014563
Disease or Syndrome

Recent clinical studies

Diagnosis

Gönül M, Soylu S, Gül U, Aslan E, Unal T, Ergül G
Clin Exp Dermatol 2009 Jul;34(5):e106-9. Epub 2009 May 5 doi: 10.1111/j.1365-2230.2008.03191.x. [Epub ahead of print] PMID: 19438567
Wheeler PG, Medina S, Dusick A, Bull MJ, Andreoli SP, Edwards-Brown M, Weaver DD
Clin Dysmorphol 1998 Jan;7(1):69-74. PMID: 9546837
Nagey L, McCabe SJ, Wolff TW
J Hand Surg Br 1990 Nov;15(4):489-90. PMID: 2269846

Recent systematic reviews

Toro-Sola MA, Kistenmacher ML, Punnett HH, DiGeorge AM
Clin Genet 1975 Apr;7(4):325-7. PMID: 1126054

Supplemental Content

Table of contents

    Consumer resources

    PubMed Health

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...