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Boomerang dysplasia
1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Monosomy 22q13
1 OMIM reference -
1 associated gene
35 signs/symptoms
Boomerang dysplasia
Monosomy 22q13

FLNB
(UniProt - OMIM)
 SHANK3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLNB
(0.63)
SHANK3


Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Monosomy 22q13
SHANK3



Boomerang dysplasia
Monosomy 22q13

Synonym(s):
(no synonyms)

Synonym(s):
- 22q13 deletion
- Phelan-McDermid syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
1 OMIM reference -
No MeSH references
Boomerang dysplasia
Monosomy 22q13

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
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Very frequent
- Advanced bone age
- Hypotonia
- Insensitivity to pain
- Large hand
- Long / thick / curved lashes / trichomegaly / polytrichia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic toenails

Frequent
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Deepset eyes / enophthalmos
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat face
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Long / large / bulbous nose
- Pointed chin
- Psychic / behavioural troubles
- Ptosis
- Puffy eyelids
- Sacral sinus / dimple
- Thick / bushy eyebrows

Occasional
- Anomalies of teeth and dentition
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- Generalized obesity
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Umbilical hernia