Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1

Preferred Label : Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1;

Symbol : SSFSC1;

CISMeF acronym : SSFSC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the bone morphogenetic protein-2 gene (BMP2, 112261.0003);

Prefixed ID : #617877;

Details

Origin ID

617877;

UMLS CUI

C5542952;

Genes related to phenotype
- Bone morphogenetic protein 2 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Anterior open bite [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Everted lower lip vermilion [HPO term]
- High palate [HPO term]
- Infantile muscular hypotonia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Obstructive sleep apnea [HPO term]
- Paroxysmal supraventricular tachycardia [HPO term]
- Pectus excavatum [HPO term]
- Perimembranous ventricular septal defect [HPO term]
- Pierre-Robin sequence [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent sternum [HPO term]
- Pulmonic stenosis [HPO term]
- Sandal gap [HPO term]
- Short 5th metacarpal [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Spina bifida occulta [HPO term]
- Spondylolisthesis [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Toenail dysplasia [HPO term]
- Transposition of the great arteries [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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