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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

16q24.3 microdeletion syndrome

1 associated gene
46 signs/symptoms

Boomerang dysplasia

16q24.3 microdeletion 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		16q24.3 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Del(16)(q24.3) - Monosomy 16q24.3

	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: sporadic

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


COMMON SIGNS	- Undescended / ectopic testes / cryptorchidia / unfixed testes

Boomerang dysplasia		16q24.3 microdeletion 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 - 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 Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Autism / autistic disoders - High forehead - Insterstitial / subtelomeric microdeletion / deletion - Prominent / bat ears Frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Philtrum flat / large / featureless / absent cupidon bows - Pointed chin - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Occasional - Abnormal implantation of hair - Anteverted nares / nostrils - Astigmatism - Cardiomyopathy / hypertrophic / dilated - Chronic / relapsing otitis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - High arched eyebrows - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Long face - Long philtrum - Macrocytic anemia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Myopia - Narrow forehead - Nystagmus - Preauricular / branchial tags / appendages - Proximally set thumb - Scoliosis - Solitary median incisor - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - Thick lips - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia