ODCs

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Ankyloblepharon - ectodermal defects - cleft lip/palate

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

WAGR syndrome

2 OMIM references -
3 associated genes
18 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

WAGR syndrome

TP63	(UniProt - OMIM)	BDNF	(UniProt - OMIM)
		PAX6	(UniProt - OMIM)
		WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.55)	WT1

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		WAGR syndrome
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

	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 developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 2 MeSH references: C538295 / D017624


COMMON SIGNS	- Micrognathia / retrognathia / micrognathism / retrognathism

Ankyloblepharon - ectodermal defects - cleft lip/palate		WAGR syndrome
	Very frequent - Autosomal dominant inheritance - Broad nose / nasal bridge - Coarse / thick hair - Cryptophthalmia / ankyloblepharon / synblepharon - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - 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 - Palmoplantar hyperkeratosis / keratoderma - Tooth shape anomaly 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 - Syndactyly of fingers / interdigital palm - Ventricular septal defect / interventricular communication		Very frequent - Aniridia / iris hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Anomalies of ear and hearing - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Nystagmus - Protruding lips - Ptosis - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis