ODCs

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Ectodermal dysplasia - syndactyly syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Zlotogora-Ogur syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

Ectodermal dysplasia - syndactyly syndrome

Zlotogora-Ogur syndrome

PVRL4

(UniProt - OMIM)

PVRL1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PVRL4	(0.81)	PVRL1

Citations in the biomedical literature:

Ectodermal dysplasia - syndactyly syndrome		Zlotogora-Ogur syndrome
	Synonym(s): - EDSS - EDSS1		Synonym(s): - CLPED1 - Cleft lip/palate-ectodermal dysplasia syndrome - Cleft lip/palate-syndactyly-pili torti - Syndactyly-ectodermal dysplasia-cleft/lip palate - Zlotogora-Zilberman-Tenenbaum syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536726

Zlotogora-Ogur syndrome
	Very frequent - Autosomal recessive inheritance - Cleft lip - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Long / large ear - Syndactyly of fingers / interdigital palm - Syndactyly of toes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormally placed nipples - Absent / decreased / thin eyebrows - Alopecia - Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Flat cheek bones / malar hypoplasia - High arched eyebrows - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Lateral thinning of eyebrows - Micrognathia / retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Multiple caries - Pili torti - Prominent / bat ears - Repeat respiratory infections - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Synophris / synophrys - Tooth shape anomaly Occasional - Abnormal dermatoglyphics - Anodontia / oligodontia / hypodontia - Cryptophthalmia / ankyloblepharon / synblepharon - EEG anomalies - Enamel anomaly - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Lordosis - Seizures / epilepsy / absences / spasms / status epilepticus - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis
Ectodermal dysplasia - syndactyly syndrome
(no data available)