Oral and digital anomalies with ichthyosis

Preferred Label : Oral and digital anomalies with ichthyosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In a male and female offspring of healthy first-cousin Pakistani parents, Clayton-Smith and Donnai (1989) described a similar pattern of unusual facial features, limb malformations, and postnatal-onset ichthyosis. The male had a small mouth with thin upper lip and a midline groove in the lower lip. In both children the fingers were tapering and lacked distal flexion creases. The daughter had a large gap between the second and third fingers. *FIELD* RF 1. Clayton-Smith, J.; Donnai, D.: A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. J. Med. Genet. 26: 339-342, 1989. *FIELD* CS Skin: Postnatal-onset ichthyosis;

Inheritance : Autosomal recessive;

Prefixed ID : 258840;

Details

Origin ID

258840;

UMLS CUI

C1850268;

Automatic exact mappings (from CISMeF team)
- ichthyosis tapered fingers midline groove up [MeSH concept]
Currated CISMeF NLP mapping
- Ichthyosis - oral and digital anomalies [ICD-11 More detail]
- Ichthyosis, oral and digital anomalies syndrome (disorder) [SNOMED CT concept]
- Ichthyosis-oral and digital anomalies syndrome [ORDO Disease]
- ichthyosis tapered fingers midline groove up [MeSH Supplementary Concept]
HPO term(s)
- Absent distal interphalangeal creases [HPO term]
- Autosomal recessive inheritance [HPO term]
- Narrow mouth [HPO term]
- Postnatal-onset ichthyosiform erythroderma [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Ichthyosis-oral and digital anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis-oral and digital anomalies syndrome [ORDO Disease]
- ichthyosis tapered fingers midline groove up [MeSH Supplementary Concept]
- ichthyosis tapered fingers midline groove up [MeSH concept]

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