Format

Send to:

Choose Destination

Links from Books

Hidrotic ectodermal dysplasia syndrome(ECTD2; HED2, FORMERLY)

MedGen UID:
56416
Concept ID:
C0162361
Congenital Abnormality; Disease or Syndrome
Synonyms: Autosomal dominant hidrotic ectodermal dysplasia; CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA; Clouston syndrome; Clouston's hidrotic ectodermal dysplasia; ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; Ectodermal dysplasia 2, hidrotic; Hidrotic Ectodermal Dysplasia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
SNOMED CT: Hidrotic ectodermal dysplasia (54209007); Hidrotic ectodermal dysplasia syndrome (54209007); Clouston syndrome (54209007)
 
Gene (location): GJB6 (13q12.11)
OMIM®: 129500
HPO: HP:0007529
Orphanet: ORPHA189

Disease characteristics

Excerpted from the GeneReview: Hidrotic Ectodermal Dysplasia 2
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. The clinical manifestations are highly variable even within the same family.  [from GeneReviews]
Authors:
Vazken M Der Kaloustian   view full author information

Additional descriptions

From OMIM
The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by Kibar et al., 1996).  http://www.omim.org/entry/129500
From GHR
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent.Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder.Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).  https://ghr.nlm.nih.gov/condition/clouston-syndrome

Clinical features

Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Lacrimation abnormality
MedGen UID:
425004
Concept ID:
CN000594
Finding
Abnormality of tear production.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Clubbing of toes
MedGen UID:
854352
Concept ID:
C3887489
Anatomical Abnormality
Terminal broadening of the toes (distal phalanges of the toes).
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Craniofacial hyperostosis
MedGen UID:
358122
Concept ID:
C1868085
Finding
Excessive growth of the craniofacial bones.
Clubbing of toes
MedGen UID:
854352
Concept ID:
C3887489
Anatomical Abnormality
Terminal broadening of the toes (distal phalanges of the toes).
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Abnormality of the teeth
MedGen UID:
78084
Concept ID:
C0262444
Finding
Craniofacial hyperostosis
MedGen UID:
358122
Concept ID:
C1868085
Finding
Excessive growth of the craniofacial bones.
Sparse or absent eyebrows
MedGen UID:
764344
Concept ID:
C3551430
Finding
Absence or underdevelopment of the eyebrow.
Blepharitis
MedGen UID:
504467
Concept ID:
CN000466
Finding
Inflammation of the eyelids.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Ectodermal dysplasia
MedGen UID:
8544
Concept ID:
C0013575
Congenital Abnormality
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Slow-growing hair
MedGen UID:
371309
Concept ID:
C1832348
Finding
Hair whose growth is slower than normal.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Absent pubic hair
MedGen UID:
349155
Concept ID:
C1859391
Finding
Absence of pubic hair.
Absent axillary hair
MedGen UID:
347869
Concept ID:
C1859392
Finding
Absence of axillary hair.
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Sparse or absent eyebrows
MedGen UID:
764344
Concept ID:
C3551430
Finding
Absence or underdevelopment of the eyebrow.
Generalized hyperpigmentation
MedGen UID:
870432
Concept ID:
C4024878
Finding
Palmoplantar keratoderma
MedGen UID:
504675
Concept ID:
CN000920
Finding
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHidrotic ectodermal dysplasia syndrome
Follow this link to review classifications for Hidrotic ectodermal dysplasia syndrome in Orphanet.

Conditions with this feature

Ectodermal dysplasia, hidrotic, Christianson-Fourie type
MedGen UID:
371322
Concept ID:
C1832411
Disease or Syndrome
Ectodermal dysplasia and neurosensory deafness
MedGen UID:
346503
Concept ID:
C1857068
Disease or Syndrome
Deafness, congenital, with onychodystrophy, autosomal dominant
MedGen UID:
382676
Concept ID:
C2675730
Disease or Syndrome
The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...