ODCs

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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 14

Otopalatodigital syndrome type 2

1 OMIM reference -
1 associated gene
43 signs/symptoms

Frontometaphyseal dysplasia

Otopalatodigital syndrome type 2

FLNA

(UniProt - OMIM)

FLNA

(UniProt - OMIM)


COMMON GENES	FLNA

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Otopalatodigital syndrome type 2

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: 1 OMIM reference - 1 MeSH reference: C538089


COMMON SIGNS	- Bowed diaphysis / diaphyses / long bones - Camptodactyly of fingers - Carpal bones fusion / synostosis - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Elbow dislocation - Frontal sinus agenesis / anomaly - Hypertelorism - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Scoliosis - Thumb hypoplasia / aplasia / absence - X-linked recessive inheritance

Frontometaphyseal dysplasia		Otopalatodigital syndrome type 2
	Very frequent - Diaphyseal anomaly - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis - Tooth shape anomaly Frequent - Abnormal vertebral size / shape - Advanced bone age - Conductive deafness / hearing loss - High vaulted / narrow palate - Long hand / arachnodactyly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Sensorineural deafness / hearing loss - Ulnar deviation of fingers Occasional - Atrioventricular canal - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Larynx / laryngeal stenosis / atresia - Tracheal atresia / stenosis - Ureteral stenosis / narrowing - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		Very frequent - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax - Short big toe Frequent - Anomalies of spine, vertebrae and pelvis - Cardiac septal defect - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Failure to thrive / difficulties for feeding in infancy / growth delay - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Glossoptosis - Hydrocephaly - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign - Omphalocele / exomphalos - Osteosclerosis / osteopetrosis / bone condensation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Short hand / brachydactyly - Vertebral segmentation anomaly / hemivertebrae Occasional - Encephalocele / exencephaly - Myelomeningocele - Preaxial polydactyly of toes / big toe duplication - Tarsal anomaly / fusion / synostosis