Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia

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;

Détails

Origin ID

608624;

UMLS CUI

C1837730;

CISMeF manual mappings
- midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [MeSH concept]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad lateral eyebrow [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoglycemia [HPO term]
- Low nasal bridge [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Mixed hearing impairment [HPO term]
- Narrow mouth [HPO term]
- Neonatal hypotonia [HPO term]
- Obesity [HPO term]
- Overfolded helix [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Specific learning disability [HPO term]
- Thick lower lip vermilion [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [MeSH Supplementary Concept]
- midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [MeSH concept]

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