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Focal dermal hypoplasia(FDH)

MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Synonyms: FDH; Goltz Gorlin Syndrome; Goltz Syndrome
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
X-linked dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Goltz-Gorlin (dermal hypoplasia) syndrome (2298005); Goltz Gorlin syndrome (2298005); Focal dermal hypoplasia (205573006); FDH - Focal dermal hypoplasia (205573006); FODH - Focal dermal hypoplasia (205573006); Goltz syndrome (2298005); Focal dermal hypoplasia syndrome (2298005); Goltz-Gorlin syndrome (2298005)
 
Gene (location): PORCN (Xp11.23)
OMIM®: 305600
Orphanet: ORPHA2092

Definition

Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment. [from GTR]

Additional descriptions

From GeneReviews
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.  https://www.ncbi.nlm.nih.gov/books/NBK1543
From OMIM
Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977). Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016).  http://www.omim.org/entry/305600
From GHR
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent.Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia.Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present.About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.  https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia

Clinical features

Congenital aniridia
MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.
Arnold-Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Congenital displacement of the lens resulting from defective zonule formation.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
An inherited or acquired dental abnormality characterized by improper alignment of the teeth.
Myelocystocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)
Joint laxity
MedGen UID:
39439
Concept ID:
C0086437
Pathologic Function
Lack of stability of a joint.
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
Mixed hearing impairment
MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Foot polydactyly
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Volvulus of midgut
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Deformity or discoloration of a fingernail or toenail.(NICHD)
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Congenital anomaly of abnormally short fingers or toes.
Ureter duplex
MedGen UID:
66380
Concept ID:
C0221365
Congenital Abnormality
A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Disease or Syndrome
Diaphragmatic hernia that is present at birth.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Short finger
MedGen UID:
68683
Concept ID:
C0239594
Finding
Abnormally short finger associated with developmental hypoplasia.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Retinal coloboma
MedGen UID:
66820
Concept ID:
C0240896
Congenital Abnormality
A notch or cleft of the retina.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Osteopathia striata
MedGen UID:
75574
Concept ID:
C0265513
Congenital Abnormality
A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Narrow nasal bridge
MedGen UID:
98086
Concept ID:
C0426422
Finding
Decreased width of the bony bridge of the nose.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Increase in width of the nasal tip.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Foot oligodactyly
MedGen UID:
140882
Concept ID:
C0426934
Finding
A developmental defect resulting in the presence of fewer than the normal number of toes.
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.
Narrow ear canal
MedGen UID:
108282
Concept ID:
C0576860
Finding
An abnormal narrowing of the external auditory canal.
Hand oligodactyly
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Abnormality of the pinna
MedGen UID:
167800
Concept ID:
C0857379
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Spider veins
MedGen UID:
215068
Concept ID:
C1138421
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
A finding indicating the absence of balanced proportions between parts of the face.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
The presence of developmental dysplasia of the nail.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Anterior malposition of the anus.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Clitoral hypoplasia
MedGen UID:
336198
Concept ID:
C1844527
Finding
Developmental hypoplasia of the clitoris.
Midclavicular aplasia
MedGen UID:
337017
Concept ID:
C1844529
Finding
Developmental defect resulting in congenital absence of the middle portion of the clavicle.
Midclavicular hypoplasia
MedGen UID:
337018
Concept ID:
C1844530
Finding
Underdevelopment of the middle portion of the clavicle.
Cleft ala nasi
MedGen UID:
336715
Concept ID:
C1844537
Finding
The presence of a notch in the margin of the ala nasi.
Absent fingernail
MedGen UID:
336718
Concept ID:
C1844554
Congenital Abnormality
Absence of a fingernail.
Absent toenail
MedGen UID:
336719
Concept ID:
C1844555
Congenital Abnormality
Congenital absence of the toenail.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Labial hypoplasia
MedGen UID:
342473
Concept ID:
C1850325
Finding
Thin dental enamel
MedGen UID:
343665
Concept ID:
C1851854
Finding
Developmental hypoplasia of the dental enamel.
Reticular hyperpigmentation
MedGen UID:
338832
Concept ID:
C1851972
Finding
Increased pigmentation of the skin with a netlike (reticular) pattern.
Thin, sparse hair
MedGen UID:
349904
Concept ID:
C1860844
Sign or Symptom
Reduced density of hairs.
Patchy alopecia
MedGen UID:
350774
Concept ID:
C1862862
Finding
MedGen UID:
892379
Concept ID:
C2112130
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Reduced visual acuity
MedGen UID:
461148
Concept ID:
C3149798
Linear hyperpigmentation
MedGen UID:
480288
Concept ID:
C3278658
Finding
Hiatal hernia
MedGen UID:
483347
Concept ID:
C3489393
Disease or Syndrome
Herniation of the upper part of the stomach through the diaphragm.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Bifid ureter
MedGen UID:
854360
Concept ID:
C3887498
Congenital Abnormality
Incomplete duplication of the ureter.
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Abnormality of the larynx
MedGen UID:
867407
Concept ID:
C4021777
Anatomical Abnormality
An abnormality of the larynx.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal dermal hypoplasia
Follow this link to review classifications for Focal dermal hypoplasia in Orphanet.

Recent clinical studies

Etiology

Gunasekera NS, Divito JK, Kupper TS, Huang JT, Divito SJ
Pediatr Dermatol 2017 Mar;34(2):197-198. Epub 2016 Dec 26 doi: 10.1111/pde.13056. PMID: 28025844Free PMC Article
Motil KJ, Fete M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):29-33. Epub 2016 Feb 1 doi: 10.1002/ajmg.c.31468. PMID: 27001925
Bostwick B, Fang P, Patel A, Sutton VR
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):9-20. Epub 2016 Feb 7 doi: 10.1002/ajmg.c.31473. PMID: 26853229
Deidrick KK, Early M, Constance J, Stein M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):34-40. Epub 2016 Jan 28 doi: 10.1002/ajmg.c.31471. PMID: 26818018
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779

Diagnosis

Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC
Am J Med Genet A 2017 Feb;173(2):479-486. Epub 2016 Sep 13 doi: 10.1002/ajmg.a.37974. PMID: 27623003
Gisseman JD, Herce HH
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):59-63. doi: 10.1002/ajmg.c.31480. PMID: 27001926
Bostwick B, Fang P, Patel A, Sutton VR
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):9-20. Epub 2016 Feb 7 doi: 10.1002/ajmg.c.31473. PMID: 26853229
Deidrick KK, Early M, Constance J, Stein M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):34-40. Epub 2016 Jan 28 doi: 10.1002/ajmg.c.31471. PMID: 26818018
Peters T, Perrier R, Haber RM
Pediatr Dermatol 2014 Mar-Apr;31(2):220-4. Epub 2014 Jan 5 doi: 10.1111/pde.12267. PMID: 24387693

Therapy

Krakowski AC, Ozog DM, Ginsberg D, Cheng C, Chaffins ML
JAMA Dermatol 2017 Dec 1;153(12):1292-1297. doi: 10.1001/jamadermatol.2017.3669. PMID: 28975212
Pasman EA, Heifert TA, Nylund CM
World J Gastroenterol 2017 Mar 28;23(12):2246-2250. doi: 10.3748/wjg.v23.i12.2246. PMID: 28405153Free PMC Article
Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T
Eur J Dermatol 2013 Jan-Feb;23(1):64-7. doi: 10.1684/ejd.2012.1911. PMID: 23399492
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236
Liu J, Hsu PT, VanderWielen BA, Teng JM
Pediatr Dermatol 2012 May-Jun;29(3):324-6. Epub 2011 Oct 13 doi: 10.1111/j.1525-1470.2011.01436.x. PMID: 21995324

Prognosis

Bree AF, Grange DK, Hicks MJ, Goltz RW
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):44-51. Epub 2016 Feb 9 doi: 10.1002/ajmg.c.31472. PMID: 26858134
Arias-Llorente RP, Rodriguez-Dehli C, López-Martínez A, Riaño-Galán I
Fetal Pediatr Pathol 2015;34(6):375-82. Epub 2015 Oct 16 doi: 10.3109/15513815.2015.1095257. PMID: 26470739
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779
Dias C, Basto J, Pinho O, Barbêdo C, Mártins M, Bornholdt D, Fortuna A, Grzeschik KH, Lima M
Fetal Pediatr Pathol 2010;29(5):305-13. doi: 10.3109/15513811003796912. PMID: 20704476
Tejani Z, Batra P, Mason C, Atherton D
J Clin Pediatr Dent 2005 Fall;30(1):67-72. PMID: 16302603

Clinical prediction guides

Krakowski AC, Ozog DM, Ginsberg D, Cheng C, Chaffins ML
JAMA Dermatol 2017 Dec 1;153(12):1292-1297. doi: 10.1001/jamadermatol.2017.3669. PMID: 28975212
Gisseman JD, Herce HH
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):59-63. doi: 10.1002/ajmg.c.31480. PMID: 27001926
Motil KJ, Fete M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):29-33. Epub 2016 Feb 1 doi: 10.1002/ajmg.c.31468. PMID: 27001925
Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH
Am J Med Genet A 2013 Jul;161A(7):1750-4. Epub 2013 May 21 doi: 10.1002/ajmg.a.35964. PMID: 23696273
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236

Recent systematic reviews

Wettke-Schäfer R, Kantner G
Hum Genet 1983;64(1):1-23. PMID: 6873941
Toro-Sola MA, Kistenmacher ML, Punnett HH, DiGeorge AM
Clin Genet 1975 Apr;7(4):325-7. PMID: 1126054

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