Acromicric dysplasia

Preferred Label : Acromicric dysplasia;

Symbol : ACMICD;

CISMeF acronym : ACMICD;

Type : Phenotype, molecular basis known;

Description : Acromicric dysplasia is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0055);

Laboratory abnormalities : Growth cartilage disorganized, with islands of cells and abnormal collagen arrangement;

Prefixed ID : #102370;

Details

Origin ID

102370;

UMLS CUI

C0265287;

Automatic exact mappings (from CISMeF team)
- Acromicric dysplasia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Acromicric dysplasia [ICD-11 More detail]
- Acromicric dysplasia [MeSH concept]
- Acromicric dysplasia [ORDO Disease]
- Acromicric dysplasia (disorder) [SNOMED CT concept]
- acromicric dysplasia [DO Concept]
- acromicric dysplasia [MeSH Supplementary Concept]
DO Cross reference
- acromicric dysplasia [DO Concept]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Cone-shaped epiphysis [HPO term]
- Deep philtrum [HPO term]
- Delayed skeletal maturation [HPO term]
- Fifth metacarpal with ulnar notch [HPO term]
- Hoarse voice [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Narrow mouth [HPO term]
- Ovoid vertebral bodies [HPO term]
- Round face [HPO term]
- Severe growth retardation [HPO term]
- Severe short stature [HPO term]
- Short foot [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short stubby metacarpals and phalanges [HPO term]
- Thick lower lip vermilion [HPO term]
- Thickened skin [HPO term]
ORDO concept(s)
- Acromicric dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acromicric dysplasia [ORDO Disease]
- Acromicric dysplasia [MeSH concept]
- Acromicric dysplasia [ICD-11 More detail]
- Acromicric dysplasia [MedDRA Preferred Term]
- Acromicric dysplasia (disorder) [SNOMED CT concept]
- acromicric dysplasia [MeSH Supplementary Concept]
- acromicric dysplasia [DO Concept]

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