NIH Rare Diseases
:
53
Rapp-Hodgkin syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. This condition is characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. Other common features include sparse, brittle, and dry hair with alopecia in adulthood together with hypohidrosis (a reduced ability to sweat) and heat intolerance, dental anomalies (hypodontia (absent teeth) , cone-shaped incisors and enamel hypoplasia (thin or absent tooth enamel) and dysplastic (misshapen or absent) nails. Rapp-Hodgkin syndrome is transmitted as an autosomal dominanttrait and is caused by mutations in the TP63 gene. Treatment is symptomatic and supportive. A multidisciplinary team of specialists in medical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, gastroenterology, and psychiatry is recommended.Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.
MalaCards based summary
:
Rapp-Hodgkin Syndrome, also known as
orofacial cleft 8, is related to
rh-null, regulator type and
rh-null, amorph type, and has symptoms including
pachyonychia An important gene associated with Rapp-Hodgkin Syndrome is
TP63 (Tumor Protein P63), and among its related pathways/superpathways is
TP53 Network. Affiliated tissues include
skin and
tongue, and related phenotypes are
ptosis and
hearing impairment
UniProtKB/Swiss-Prot
:
75
Ectodermal dysplasia, Rapp-Hodgkin type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow- growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. Non-syndromic orofacial cleft 8: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Disease Ontology
:
12
An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
Wikipedia
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76
Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene...
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