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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
1 OMIM reference -
1 associated gene
38 signs/symptoms
Boomerang dysplasia
Osteodysplasty, Melnick-Needles type

FLNB FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.95)
FLNA



Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Osteodysplasty, Melnick-Needles type
FLNA



Boomerang dysplasia
Osteodysplasty, Melnick-Needles type

Synonym(s):
(no synonyms)

Synonym(s):
- Melnick-Needles 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 eye disease
- Rare genetic disease
- Rare neurologic 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: x-linked dominant

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


COMMON
SIGNS
- Metacarpal anomalies / Archibald's sign
- Narrow rib cage / thorax
- Omphalocele / exomphalos
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death


Boomerang dysplasia
Osteodysplasty, Melnick-Needles type

Very frequent
- Abnormal / absent ossification
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Lack / delayed ossification of spine / vertebrae
- Rhizomelic micromelia
- 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
- 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
- Bowed diaphysis / diaphyses / long bones
- Cortical anomaly / thick bone cortical layer
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Long foot / arachnodactyly of toes
- Long hand / arachnodactyly
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent supraorbital ridge
- Proptosis / exophthalmos
- Short rib cage / thorax
- X-linked dominant inheritance

Frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Broad cheeks / cherub-like / cherubin face
- Cardiac septal defect
- Clavicle absent / abnormal
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Repeat respiratory infections
- Rib structure anomalies
- Scoliosis
- Terminal / third phalangeal bone of fingers hypoplasia
- Vesicorenal / vesicoureteral reflux

Occasional
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction