Catel-manzke syndrome

Preferred Label : Catel-manzke syndrome;

Obsolete resource : true;

Moved to : 616145;

Alternative titles and symbols : Hyperphalangy-clinodactyly of index finger with pierre robin syndrome; Pierre robin syndrome with hyperphalangy and clinodactyly; Index finger anomaly with pierre robin syndrome; Palatodigital syndrome, catel-manzke type; Micrognathia digital syndrome;

Description : Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).;

Inheritance : X-linked recessive; Isolated cases;

Prefixed ID : 302380;

Details

Origin ID

302380;

UMLS CUI

C1844887;

CISMeF manual mappings
- Catel Manzke syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Catel Manzke syndrome [MeSH concept]
- Catel-Manzke syndrome [ORDO Disease]
- catel manzke syndrome [MeSH Supplementary Concept]
HPO term(s)
- High-arched palate [HPO term]
- Isolated cases [HPO term]
- Prenatal growth deficiency [HPO term]
ORDO concept(s)
- Catel-Manzke syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Catel Manzke syndrome [MeSH concept]
- Catel Manzke syndrome [MedDRA Preferred Term]
- Catel Manzke syndrome (disorder) [SNOMED CT concept]
- Catel-Manzke syndrome [ORDO Disease]
- catel manzke syndrome [MeSH Supplementary Concept]

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