Pterygia, impaired intellectual development, and distinctive craniofacial features

Preferred Label : Pterygia, impaired intellectual development, and distinctive craniofacial features;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Haspeslagh syndrome; Pterygia, mental retardation, and distinctive craniofacial features;

Inheritance : Autosomal dominant;

Laboratory abnormalities : High resolution G- and T- banding karyotype shows reciprocal translocation of distal 9p-6q;

Prefixed ID : #177980;

Details

Origin ID

177980;

UMLS CUI

C1867443;

Currated CISMeF NLP mapping
- Haspeslagh Fryns Muelenaere syndrome [MeSH concept]
- Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) [SNOMED CT concept]
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]
- haspeslagh fryns muelenaere syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Abnormal rib cage morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulging forehead [HPO term]
- Dysplastic ears [HPO term]
- Epicanthus [HPO term]
- External genital hypoplasia [HPO term]
- Flat face [HPO term]
- Frontal bossing [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic nipples [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Microretrognathia [HPO term]
- Narrow mouth [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Pterygium [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Haspeslagh Fryns Muelenaere syndrome [MeSH concept]
- Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) [SNOMED CT concept]
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]
- haspeslagh fryns muelenaere syndrome [MeSH Supplementary Concept]

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