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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

Boomerang dysplasia

Otospondylomegaepiphyseal dysplasia

FLNB	(UniProt - OMIM)		COL11A2	(UniProt - OMIM)
			COL2A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	COL11A2

Citations in the biomedical literature:

Boomerang dysplasia		Otospondylomegaepiphyseal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - OSMED

	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

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536573		External references: 1 OMIM reference - No MeSH references

Boomerang dysplasia		Otospondylomegaepiphyseal dysplasia
	Very frequent - Abnormal / absent ossification - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Lack / delayed ossification of spine / vertebrae - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - 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 - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Metacarpal anomalies / Archibald's sign - Omphalocele / exomphalos - 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 - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis - Sensorineural deafness / hearing loss Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Lordosis Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication