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Proximal symphalangism

2 OMIM references -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

14q22q23 microdeletion syndrome

2 associated genes
33 signs/symptoms

Proximal symphalangism

14q22q23 microdeletion syndrome

GDF5	(UniProt - OMIM)		BMP4	(UniProt - OMIM)
NOG	(UniProt - OMIM)		SIX6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NOG	(0.62)	BMP4

Citations in the biomedical literature:

Proximal symphalangism		14q22q23 microdeletion syndrome
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - 14q22-q23 microdeletion syndrome - Del(14)(q22q23) - Monosomy 14q22-q23 - Monosomy 14q22q23

	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: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: C536223		External references: No OMIM references No MeSH references


COMMON SIGNS	- Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm

Proximal symphalangism		14q22q23 microdeletion syndrome
	Very frequent - Autosomal dominant inheritance - Camptodactyly of some fingers - Carpal bones fusion / synostosis - Symphalangy of fingers - Tarsal anomaly / fusion / synostosis Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Elbow dislocation - Humeroradial fusion - Sensorineural deafness / hearing loss Occasional - Strabismus / squint - Wrist / carpal anomalies		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Downturned mouth - External auditory canal atresia / stenosis / agenesis - External ear anomalies - High forehead - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Brachycephaly / flat occiput - Corpus callosum / septum pellucidum total / partial agenesis - Diabetes insipidus - Dilated cerebral ventricles without hydrocephaly - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Micrognathia / retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Thin / hypoplastic ala nasi Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cortico-adrenal hypoplasia / insufficiency - Delayed bone age - Fetal immobility / abnormal fetal movements - Hearing loss / hypoacusia / deafness - Short foot / brachydactyly of toes - Simian crease / transverse / unique palmar crease - Syndactyly of toes