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Acrocallosal syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

2 OMIM references -
2 associated genes
23 signs/symptoms

Acrocallosal syndrome

Hydrolethalus

GLI3	(UniProt - OMIM)		HYLS1	(UniProt - OMIM)
KIF7	(UniProt - OMIM)		KIF7	(UniProt - OMIM)


COMMON GENES	KIF7

Citations in the biomedical literature:

Acrocallosal syndrome		Hydrolethalus
	Synonym(s): - ACS		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536079


COMMON SIGNS	- Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes

Acrocallosal syndrome		Hydrolethalus
	Very frequent - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Diaphragmatic hernia / defect / agenesis - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Tall stature / gigantism / growth acceleration		Very frequent - Hydrocephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Polyhydramnios - Prematurity - Stillbirth / neonatal death Frequent - Anomalies of nose and olfaction - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Laryngomalacia - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Structural anomalies of the respiratory system and diaphragm - Tracheal atresia / stenosis Occasional - Anencephaly / acrania - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Short limbs / micromelia / brachymelia - Uterine / uterus / Fallopian tubes anomalies