ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 20

1 OMIM reference -
1 associated gene
43 signs/symptoms

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

FLNA

Citations in the biomedical literature:

Otopalatodigital syndrome type 1		Otopalatodigital syndrome type 2

	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 (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: - Average age onset: - 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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538089


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Anomalies of spine, vertebrae and pelvis - Bowed diaphysis / diaphyses / long bones - Broad nose / nasal bridge - Carpal bones fusion / synostosis - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Elbow dislocation - Frontal sinus agenesis / anomaly - Hearing loss / hypoacusia / deafness - Hypertelorism - Metacarpal anomalies / Archibald's sign - Osteosclerosis / osteopetrosis / bone condensation - Prominent supraorbital ridge - Short big toe - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis - Thumb hypoplasia / aplasia / absence - X-linked recessive inheritance

Otopalatodigital syndrome type 1		Otopalatodigital syndrome type 2
	Very frequent - Restricted joint mobility / joint stiffness / ankylosis - Wide space between 1st-2nd toes Frequent - Proximally set thumb - Terminal / third phalangeal bone of fingers hypoplasia		Very frequent - Death in infancy - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax Frequent - Camptodactyly of fingers - 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 - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Omphalocele / exomphalos - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Vertebral segmentation anomaly / hemivertebrae Occasional - Encephalocele / exencephaly - Myelomeningocele - Preaxial polydactyly of toes / big toe duplication - Scoliosis