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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Xq27.3q28 duplication syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

Boomerang dysplasia

Xq27.3q28 duplication syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	FMR1

Citations in the biomedical literature:

Boomerang dysplasia		Xq27.3q28 duplication syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Dup(X)(q27.3q28) - Trisomy Xq27.3-q28 - Trisomy Xq27.3q28 - Xq27.3-q28 microduplication syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - 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: x-linked recessive

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


COMMON SIGNS	- Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes

Boomerang dysplasia		Xq27.3q28 duplication 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 - 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 Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long / large / bulbous nose - Small foot - Small hand / acromicria - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Thin / retracted lips - Total / partial trisomy / duplication Frequent - Decreased body hair / axillar / pubic hairlessness - Delayed bone age - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Intrauterine growth retardation - Truncal obesity Occasional - Precocious menopause / secondary amenorrhea