ODCs

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Boomerang dysplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Boomerang dysplasia

Autosomal dominant Larsen syndrome

FLNB

(UniProt - OMIM)

FLNB

(UniProt - OMIM)


COMMON GENES	FLNB

Citations in the biomedical literature:

Boomerang dysplasia		Autosomal dominant Larsen syndrome

	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 - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy 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 - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes

Boomerang dysplasia		Autosomal dominant Larsen 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 Occasional - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray		Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad / bifid thumb - Depressed nasal bridge - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Joint dislocation / subluxation - Long hand / arachnodactyly - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Structural anomalies of the cardio-circulatory system - Vertebral segmentation anomaly / hemivertebrae