ODCs

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Ankyloblepharon - ectodermal defects - cleft lip/palate

1 OMIM reference -
1 associated gene
29 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

ADULT syndrome

1 OMIM reference -
1 associated gene
22 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

ADULT syndrome

TP63

(UniProt - OMIM)

TP63

(UniProt - OMIM)


COMMON GENES	TP63

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		ADULT syndrome
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): - Acro-dermato-ungual-lacrimal-tooth syndrome - Pigment anomaly - ectrodactyly - hypodontia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538052


COMMON SIGNS	- Broad nose / nasal bridge - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Syndactyly of fingers / interdigital palm - Tooth shape anomaly

Ankyloblepharon - ectodermal defects - cleft lip/palate		ADULT syndrome
	Very frequent - Autosomal dominant inheritance - Coarse / thick hair - Cryptophthalmia / ankyloblepharon / synblepharon - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Lateral cleft lip / gingival cleft / paramedian nasal cleft Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / decreased lashes - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Diffuse / generalised skin hyperpigmentation / melanoderma - Enamel anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Palmoplantar hyperkeratosis / keratoderma Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal recessive inheritance - Clinodactyly of fifth finger - Conductive deafness / hearing loss - Defect / anomaly of lacrimal system - Delayed dentition / eruption of teeth / lack of eruption of teeth - Prominent / bat ears - Supernumerary nipples / polythelia - Ventricular septal defect / interventricular communication		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Chronic skin infection / ulcerations / ulcers / cancrum - Dry / squaly skin / exfoliation - Excessive freckling - Fine hair - Nails anomalies - Oligodactyly / ectrodactyly of toes - Pigmented naevi / naevus pigmentosus / lentigo - Syndactyly of toes - Thin skin Frequent - Alopecia - Breast tissue / mammary gland absence / aplasia - Hypoplastic / absent nipples Occasional - Face / facial anomalies - High nasal bridge