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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
31 signs/symptoms

Boomerang dysplasia

KBG syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	ANKRD11

Citations in the biomedical literature:

Boomerang dysplasia		KBG syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic 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: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536573		External references: 1 OMIM reference - 1 MeSH reference: C537015


COMMON SIGNS	- Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Short stature / dwarfism / nanism - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes

Boomerang dysplasia		KBG syndrome
	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 - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Absent / hypotonic / flaccid abdominal wall muscles - 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 Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Abnormal vertebral size / shape - Absent / decreased / thin eyebrows - Anomalies of the ribs - Autosomal dominant inheritance - Brachycephaly / flat occiput - Complete / partial macrodontia - Delayed bone age - Intellectual deficit / mental / psychomotor retardation / learning disability - Round face - Short hand / brachydactyly - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - EEG anomalies - Hypertelorism - Low hair line (back) - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Short neck - Simian crease / transverse / unique palmar crease - Strabismus / squint Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Enamel anomaly - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hearing loss / hypoacusia / deafness - Pointed chin - Postaxial polydactyly (hand)