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Scalp-ear-nipple syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
25 signs/symptoms

Scalp-ear-nipple syndrome

Char syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KCTD1	(0.7)	TFAP2B

Citations in the biomedical literature:

Scalp-ear-nipple syndrome		Char syndrome
	Synonym(s): - Finlay-Marks syndrome		Synonym(s): - Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare gynecologic or obstetric disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available 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 dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536623		External references: 1 OMIM reference - 1 MeSH reference: C538076


COMMON SIGNS	- Autosomal dominant inheritance

Scalp-ear-nipple syndrome		Char syndrome
	Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Antihelix anomaly - Antitragus abnormal - Hypoplastic / absent nipples - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Small / hypoplastic / adherent / absent ear lobe - Tragus abnormal / absent Frequent - Abnormal fingernails - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Cataract / lens opacification - Chronic arterial hypertension - Delayed dentition / eruption of teeth / lack of eruption of teeth - Insulin-dependent / type 1 diabetes - Recurrent urinary infections - Structural anomalies of the kidney and the urinary tract - Telecanthus / canthal dystopy Occasional - Coloboma of the eyelid - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Renal / kidney anomalies - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter		Very frequent - Depressed nasal bridge - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Everted lower lip - Flattened nose - Hypertelorism - Patent ductus arteriosus - Ptosis - Short philtrum - Thick lips Frequent - Clinodactyly of fifth finger Occasional - Anodontia / oligodontia / hypodontia - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Myopia - Polydactyly of toes - Prominent occiput / occipital bossing - Somnolence / hypersomnia / parasomnia - Strabismus / squint - Supernumerary nipples / polythelia - Symphalangy of fingers - Syndactyly of toes - Upper limb polydactyly / hexadactyly - Ventricular septal defect / interventricular communication