Preferred Label : Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Rozendaal et al. (2003) reported 2 brothers born to consanguineous parents who presented
with hypotonia and hypoglycemia in the neonatal period and later developed obesity
and developmental delay. They had brachydactyly and similar facial features, including
a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth,
and small, low-set ears with overfolded helices. Their sister had mild developmental
delay and obesity. No additional anomalies were found, and metabolic investigations,
including peroxisomal functions, were normal. The authors suggested that the patients
had a previously unreported condition with an autosomal recessive or X-linked mode
of inheritance. *FIELD* RF 1. Rozendaal, L.; Del Canho, H.; Waterham, H. R.; Hennekam,
R. C. M.: Midface hypoplasia, obesity, developmental delay and neonatal hypotonia
in two brothers. Clin. Dysmorph. 12: 9-13, 2003. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 608624;
Origin ID : 608624;
UMLS CUI : C1837730;
CISMeF manual mappings
Currated CISMeF NLP mapping
HPO term(s)
Semantic type(s)
UMLS correspondences (same concept)