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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Neuralgic amyotrophy

1 OMIM reference -
1 associated gene
15 signs/symptoms

Boomerang dysplasia

Neuralgic amyotrophy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.49)	SEPT9

Citations in the biomedical literature:

Boomerang dysplasia		Neuralgic amyotrophy
	Synonym(s): (no synonyms)		Synonym(s): - Acute brachial plexus neuritis - Brachial plexus neuritis - Immune brachial plexus neuropathy - Mononeuritis multiplex with brachial predilection - Neuralgic shoulder amyotrophy - Serum neuritis - Winged scapula

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 6-9 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Short stature / dwarfism / nanism

Boomerang dysplasia		Neuralgic amyotrophy
	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 - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Abnormal EMG / electromyogram / electropmyography - Articular / joint pain / arthralgia - Muscle weakness / flaccidity - Neuritis / polyneuritis / multineuritis Frequent - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Cleft lip and palate - Elocution disorders / dysarthria / dysphonia - Microstomia / little mouth - Peripheral neuropathy - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round face - Sleep and vigilance disorders