Symphalangism with multiple anomalies of hands and feet

Preferred Label : Symphalangism with multiple anomalies of hands and feet;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Learman et al. (1981) studied an Arabic kindred in which the father and 5 of his 11 children had proximal symphalangism with syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern. All the features showed considerable variability. No linkage was demonstrated with the marker traits studied. *FIELD* RF 1. Learman, Y.; Katznelson, M. B.-M.; Bonne-Tamir, B.; Engel, J.; Hertz, M.; Goodman, R. M.: Symphalangism with multiple anomalies of the hands and feet: a new genetic trait. Am. J. Med. Genet. 10: 245-255, 1981. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 185750;

Details

Origin ID

185750;

UMLS CUI

C1861391;

Currated CISMeF NLP mapping
- Symphalangism with multiple anomalies of hands and feet [ORDO Disease]
- Symphalangism with multiple anomalies of hands and feet syndrome (disorder) [SNOMED CT concept]
- symphalangism with multiple anomalies of hands and feet [MeSH concept]
- symphalangism with multiple anomalies of hands and feet [MeSH Supplementary Concept]
HPO term(s)
- Absent dorsal skin creases over affected joints [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th toe [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Hearing impairment [HPO term]
- Macrocephaly [HPO term]
- Proximal symphalangism of hands [HPO term]
- Reduced proximal interphalangeal joint space [HPO term]
- Short thumb [HPO term]
- Small hypothenar eminence [HPO term]
- Small thenar eminence [HPO term]
- Thumb brachydactyly [HPO term]
- Toe syndactyly [HPO term]
ORDO concept(s)
- Symphalangism with multiple anomalies of hands and feet [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Symphalangism with multiple anomalies of hands and feet [ORDO Disease]
- Symphalangism with multiple anomalies of hands and feet syndrome (disorder) [SNOMED CT concept]
- symphalangism with multiple anomalies of hands and feet [MeSH Supplementary Concept]
- symphalangism with multiple anomalies of hands and feet [MeSH concept]

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