Whistling face syndrome, recessive form

Preferred Label : Whistling face syndrome, recessive form;

Type : Phenotype or locus, molecular basis unknown;

Description : Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance (summary by Altunhan et al., 2010).;

Inheritance : Autosomal recessive;

Prefixed ID : %277720;

Details

Origin ID

277720;

UMLS CUI

C1848470;

Currated CISMeF NLP mapping
- Whistling face syndrome, recessive form [MeSH concept]
- whistling face syndrome, recessive form [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive Whistling face syndrome [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly [HPO term]
- Dimple chin [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- High nasal bridge [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Shoulder flexion contracture [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Trismus [HPO term]
- Ulnar deviation of finger [HPO term]
- Underdeveloped nasal alae [HPO term]
- Whistling appearance [HPO term]
ORDO concept(s)
- Freeman-Sheldon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Whistling face syndrome, recessive form [MeSH concept]
- whistling face syndrome, recessive form [MeSH Supplementary Concept]

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