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: 7

2q32q33 microdeletion syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

2q32q33 microdeletion syndrome

TP63

(UniProt - OMIM)

SATB2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.73)	SATB2

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		2q32q33 microdeletion syndrome
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): - 2q32-q33 microdeletion syndrome - Del(2)(q32) - Del(2)(q32q33) - Monosomy 2q32 - Monosomy 2q32-q33 - Monosomy 2q32q33

	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 genetic 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: sporadic

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


COMMON SIGNS	- Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Micrognathia / retrognathia / micrognathism / retrognathism - Tooth shape anomaly

Ankyloblepharon - ectodermal defects - cleft lip/palate		2q32q33 microdeletion 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 - Lateral cleft lip / gingival cleft / paramedian nasal cleft Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / decreased lashes - Absent / decreased / thin eyebrows - Diffuse / generalised skin hyperpigmentation / melanoderma - Enamel anomaly - Palmoplantar hyperkeratosis / keratoderma Occasional - Autosomal recessive inheritance - 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 - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - High forehead - High nasal bridge - High vaulted / narrow palate - Hypotonia - Low set ears / posteriorly rotated ears - Thin / retracted lips Occasional - Anteverted nares / nostrils - Autism / autistic disoders - Beaked nose - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - Clinodactyly of toes - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long face - Long hand / arachnodactyly - Long philtrum - Microcephaly - Microstomia / little mouth - Sleep and vigilance disorders - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Strabismus / squint - Talipes-varus / metatarsal varus