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14q22q23 microdeletion syndrome

2 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Brachydactyly type C

1 OMIM reference -
2 associated genes
11 signs/symptoms

14q22q23 microdeletion syndrome

Brachydactyly type C

BMP4	(UniProt - OMIM)		BMPR1B	(UniProt - OMIM)
SIX6	(UniProt - OMIM)		GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP4	(0.93)	BMPR1B

Citations in the biomedical literature:

14q22q23 microdeletion syndrome		Brachydactyly type C
	Synonym(s): - 14q22-q23 microdeletion syndrome - Del(14)(q22q23) - Monosomy 14q22-q23 - Monosomy 14q22q23		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - 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: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537093


COMMON SIGNS	- Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism

14q22q23 microdeletion syndrome		Brachydactyly type C
	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 - 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 - Simian crease / transverse / unique palmar crease - Syndactyly of fingers / interdigital palm - Syndactyly of toes		Very frequent - Autosomal dominant inheritance - Ulnar deviation of fingers Frequent - Cone epiphyses / epiphysis - Thin / hypoplastic / hyperconvex fingernails Occasional - Symphalangy of fingers - Talipes-valgus