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Scalp-ear-nipple syndrome
1 OMIM reference -
1 associated gene
10 connected diseases
23 signs/symptoms
Disease Type of connection
Branchio-oculo-facial syndrome
Char syndrome
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Panhypopituitarism
Synonym(s):
- Finlay-Marks syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
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
External references:
1 OMIM reference -
1 MeSH reference: C536623
Gene symbol UniProt reference OMIM reference
KCTD1 Q719H9613420
Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Antihelix anomaly
- Antitragus abnormal
- Autosomal dominant inheritance
- 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