Preferred Label : Short stature-obesity syndrome;
Symbol : SSOS;
CISMeF acronym : SSOS;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Schinzel and Bernasconi (1990) reported the cases of a 13-year-old boy and his 28-year-old
sister who had short stature, obesity, and a pattern of minor anomalies including
a sloping, narrow forehead; small ears; narrow nose with prominent bridge and long
septum; receding mandible; and short limbs with brachydactyly and clinodactyly of
the fifth fingers. Intelligence was normal. The parents were normal but remotely consanguineous.
Both had hypermetropia. The sister was 138 cm tall and managed the family's butchery.
At age 22, the brother had reached the height of 142 cm. *FIELD* RF 1. Schinzel, A.;
Bernasconi, S.: Short stature, brachydactyly, small ears, and a pattern of minor anomalies
in brother and sister born to consanguineous parents: a hitherto unreported syndrome?
Am. J. Med. Genet. 36: 243-246, 1990. *FIELD* CS Growth: Short stature; Obesity;
Inheritance : Autosomal recessive;
Prefixed ID : 269870;
Origin ID : 269870;
UMLS CUI : C1849235;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
