Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly

Preferred Label : Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly;

Symbol : MDMHB;

CISMeF acronym : MDMHB;

Type : Phenotype, molecular basis known;

Description : Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013).;

Inheritance : Autosomal dominant;

Prefixed ID : #156510;

Details

Origin ID

156510;

UMLS CUI

C3549874;

Automatic exact mappings (from CISMeF team)
- metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [DO Concept]
Currated CISMeF NLP mapping
- Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly [ICD-11 More detail]
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ORDO Disease]
- metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [MeSH concept]
- metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [MeSH Supplementary Concept]
DO Cross reference
- metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [DO Concept]
Genes related to phenotype
- Runt-related transcription factor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Flared irregular metaphyses [HPO term]
- Flared metaphysis [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Metaphyseal dysplasia [HPO term]
- Multiple small vertebral fractures [HPO term]
- Osteoporosis of vertebrae [HPO term]
- Platyspondyly [HPO term]
- Premature loss of teeth [HPO term]
- Short 5th metacarpal [HPO term]
- Short middle phalanx of fingers 2 and 5 [HPO term]
- Short middle phalanx of the 2nd finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
ORDO concept(s)
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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