ODCs

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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Otopalatodigital syndrome type 2

1 OMIM reference -
1 associated gene
43 signs/symptoms

Boomerang dysplasia

Otopalatodigital syndrome type 2

FLNB

(UniProt - OMIM)

FLNA

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.95)	FLNA

Citations in the biomedical literature:

Boomerang dysplasia		Otopalatodigital syndrome type 2

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: (no data available)		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: C536573		External references: 1 OMIM reference - 1 MeSH reference: C538089


COMMON SIGNS	- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Metacarpal anomalies / Archibald's sign - Narrow rib cage / thorax - Omphalocele / exomphalos - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Boomerang dysplasia		Otopalatodigital syndrome type 2
	Very frequent - Abnormal / absent ossification - Lack / delayed ossification of spine / vertebrae - Rhizomelic micromelia - Short stature / dwarfism / nanism - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Absent / hypotonic / flaccid abdominal wall muscles - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hydrops fetalis - Polyhydramnios - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Anodontia / oligodontia / hypodontia - Bowed diaphysis / diaphyses / long bones - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Large fontanelle / delayed fontanelle closure - Prominent supraorbital ridge - Short big toe - Thumb hypoplasia / aplasia / absence - X-linked recessive inheritance Frequent - Anomalies of spine, vertebrae and pelvis - Camptodactyly of fingers - Cardiac septal defect - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal sinus agenesis / anomaly - Glossoptosis - Hydrocephaly - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Osteosclerosis / osteopetrosis / bone condensation - Rib structure anomalies - Short hand / brachydactyly - Vertebral segmentation anomaly / hemivertebrae Occasional - Carpal bones fusion / synostosis - Encephalocele / exencephaly - Myelomeningocele - Preaxial polydactyly of toes / big toe duplication - Scoliosis - Tarsal anomaly / fusion / synostosis