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: 4

Ear-patella-short stature syndrome

5 OMIM references -
5 associated genes
35 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

Ear-patella-short stature syndrome

TP63	(UniProt - OMIM)	CDC6	(UniProt - OMIM)
		CDT1	(UniProt - OMIM)
		ORC1	(UniProt - OMIM)
		ORC4	(UniProt - OMIM)
		ORC6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.63)	CDT1

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		Ear-patella-short stature syndrome
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): - Meier-Gorlin syndrome

	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 genetic disease - Rare neurologic 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: C538012


COMMON SIGNS	- Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Micrognathia / retrognathia / micrognathism / retrognathism

Ankyloblepharon - ectodermal defects - cleft lip/palate		Ear-patella-short stature 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 - Diffuse / generalised skin hyperpigmentation / melanoderma - Enamel anomaly - Palmoplantar hyperkeratosis / keratoderma - Tooth shape anomaly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - 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 - Delayed bone age - Epiphyseal anomaly - External auditory canal atresia / stenosis / agenesis - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Microcephaly - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Camptodactyly of fingers - Clavicle absent / abnormal - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Craniostenosis / craniosynostosis / sutural synostosis - Female pseudohermaphrodism / virilisation / clitoridomegaly - High vaulted / narrow palate - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Patella absent / abnormal (excluding luxation) - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib structure anomalies Occasional - Breast tissue / mammary gland absence / aplasia - Elbow dislocation - Hearing loss / hypoacusia / deafness - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Thick lips