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14q22q23 microdeletion syndrome
2 associated genes
19 connected diseases
33 signs/symptoms
Disease Type of connection
Microphthalmia - cataract
Microphthalmia with brain and digit anomalies
Brachydactyly type A2
Brachydactyly type C
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Juvenile polyposis of infancy
Pulmonary venoocclusive disease
Brachydactyly type B2
Multiple synostoses syndrome
Proximal symphalangism
Stapes ankylosis with broad thumbs and toes
Tarsal-carpal coalition syndrome
CARASIL
Isolated congenital megalocornea
Diaphanospondylodysostosis
Synonym(s):
- 14q22-q23 microdeletion syndrome
- Del(14)(q22q23)
- Monosomy 14q22-q23
- Monosomy 14q22q23
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
BMP4 P12644112262
SIX6 O95475606326
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
- Clinodactyly of fifth finger
- Cortico-adrenal hypoplasia / insufficiency
- Delayed bone age
- Fetal immobility / abnormal fetal movements
- Hearing loss / hypoacusia / deafness
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Simian crease / transverse / unique palmar crease
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes