Frontometaphyseal dysplasia 1

Preferred Label : Frontometaphyseal dysplasia 1;

Symbol : FMD1;

CISMeF acronym : FMD; FMD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FMD;

Description : Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.';

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0011);

Prefixed ID : #305620;

Details

Origin ID

305620;

UMLS CUI

C4281559;

Automatic exact mappings (from CISMeF team)
- Arterial fibromuscular dysplasia [ICD-11 Subcategory]
- FLNA wt Allele [NCIt concept]
- Flow-Mediated Vasodilation [NCIt concept]
- Frontometaphyseal dysplasia [PASCAL descriptor]
- Frontometaphyseal dysplasia [ICD-11 More detail]
- frontometaphyseal dysplasia [DO Concept]
- frontometaphyseal dysplasia 1 [DO Concept]
Currated CISMeF NLP mapping
- Frontometaphyseal dysplasia [MeSH concept]
- Frontometaphyseal dysplasia [ORDO Disease]
- Frontometaphyseal dysplasia (disorder) [SNOMED CT concept]
- frontometaphyseal dysplasia [MeSH Supplementary Concept]
- frontometaphyseal dysplasia [SNOMED Notion]
DO Cross reference
- frontometaphyseal dysplasia 1 [DO Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Antegonial notching of mandible [HPO term]
- Anteriorly placed odontoid process [HPO term]
- Arachnodactyly [HPO term]
- Broad phalanges of the hand [HPO term]
- Camptodactyly of finger [HPO term]
- Coarse facial features [HPO term]
- Coat hanger sign of ribs [HPO term]
- Cor pulmonale [HPO term]
- Coxa valga [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Finger and wrist contractures [HPO term]
- Fused cervical vertebrae [HPO term]
- Genu valgum [HPO term]
- High palate [HPO term]
- Hirsutism [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypertelorism [HPO term]
- Increased density of long bone diaphyses [HPO term]
- Intellectual disability [HPO term]
- Knee and ankle contractures [HPO term]
- Knee flexion contracture [HPO term]
- Large foramen magnum [HPO term]
- Long foot [HPO term]
- Long phalanx of finger [HPO term]
- Mitral valve prolapse [HPO term]
- Partial fusion of carpals [HPO term]
- Partial fusion of tarsals [HPO term]
- Persistence of primary teeth [HPO term]
- Pointed chin [HPO term]
- Prominent supraorbital ridges [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Selective tooth agenesis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short chin [HPO term]
- Skeletal muscle atrophy [HPO term]
- Small pointed chin [HPO term]
- Stridor [HPO term]
- Wide nasal bridge [HPO term]
- Wrist flexion contracture [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Frontometaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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