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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

Boomerang dysplasia

Fibrochondrogenesis

FLNB	(UniProt - OMIM)		COL11A1	(UniProt - OMIM)
			COL11A2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Boomerang dysplasia		Fibrochondrogenesis

	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 dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536573		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Narrow rib cage / thorax - Omphalocele / exomphalos - Short stature / dwarfism / nanism - Stillbirth / neonatal death

Boomerang dysplasia		Fibrochondrogenesis
	Very frequent - Abnormal / absent ossification - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Lack / delayed ossification of spine / vertebrae - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rhizomelic micromelia - 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 - 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 - Anomalies of the ribs - Autosomal recessive inheritance - Diaphyseal anomaly - Flared chest / bell-shaped thorax / shield chest - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Proptosis / exophthalmos - Round face - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short neck Frequent - Absent / small fingernails / anonychia of hands - Anomalies of ear and hearing - Anteverted nares / nostrils - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Camptodactyly of fingers - Hypertelorism - Mesomelic micromelia - Plagiocephaly