Otopalatodigital syndrome, type II

Preferred Label : Otopalatodigital syndrome, type II;

Symbol : OPD2;

CISMeF acronym : FPO; OPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cranioorodigital syndrome; Opd II syndrome; Faciopalatoosseous syndrome; FPO; Opd syndrome 2;

Description : Otopalatodigital syndrome-2 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-1 (OPD1; 311300), 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 dominant;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0010);

Prefixed ID : #304120;

Details

Origin ID

304120;

UMLS CUI

C1844696;

Automatic exact mappings (from CISMeF team)
- FLNA wt Allele [NCIt concept]
- symbol withdrawn OPD2 [HGNC gene]
Currated CISMeF NLP mapping
- Oto-palato-digital syndrome, type 2 [MeSH concept]
- Oto-palato-digital syndrome, type II (disorder) [SNOMED CT concept]
- Otopalatodigital syndrome type 2 [ICD-11 More detail]
- Otopalatodigital syndrome type 2 [MedDRA LLT]
- Otopalatodigital syndrome type 2 [ORDO Disease]
- oto-palato-digital syndrome, type 2 [MeSH Supplementary Concept]
- oto-palato-digital syndrome, type ii [SNOMED Notion]
- otopalatodigital syndrome type 2 [Disease (Nov.)]
- otopalatodigital syndrome type 2 [DO Concept]
DO Cross reference
- otopalatodigital syndrome type 2 [DO Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Broad face [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Bulbous tips of toes [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital vertical talus [HPO term]
- Cryptorchidism [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Femoral bowing [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic ilia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Irregular metacarpals [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Nonossified fifth metatarsal [HPO term]
- Omphalocele [HPO term]
- Overlapping fingers [HPO term]
- Pectus excavatum [HPO term]
- Platyspondyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent forehead [HPO term]
- Radial bowing [HPO term]
- Radial deviation of the 2nd finger [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Rocker bottom foot [HPO term]
- Rudimentary fibula [HPO term]
- Sclerosis of skull base [HPO term]
- Severe micrognathia [HPO term]
- Short hallux [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Short, broad hallux [HPO term]
- Short, broad thumbs [HPO term]
- Spondylolysis [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Tibial bowing [HPO term]
- Toe syndactyly [HPO term]
- Ulnar bowing [HPO term]
- Undulate clavicles [HPO term]
- Vertical clivus [HPO term]
- Wide anterior fontanel [HPO term]
- Wormian bones [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Otopalatodigital syndrome type 2 [ORDO Disease]
See also inter- (CISMeF)
- Keipert syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oto-palato-digital syndrome, type 2 [MeSH concept]
- Oto-palato-digital syndrome, type II (disorder) [SNOMED CT concept]
- Otopalatodigital syndrome type 2 [ORDO Disease]
- Otopalatodigital syndrome type 2 [MedDRA LLT]
- oto-palato-digital syndrome, type 2 [MeSH Supplementary Concept]
- oto-palato-digital syndrome, type ii [SNOMED Notion]
- otopalatodigital syndrome type 2 [Disease (Nov.)]
- otopalatodigital syndrome type 2 [DO Concept]

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