ODCs

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Frontonasal dysplasia with alopecia and genital anomaly

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Waardenburg-Shah syndrome

3 OMIM references -
3 associated genes
22 signs/symptoms

Frontonasal dysplasia with alopecia and genital anomaly

Waardenburg-Shah syndrome

ALX4	(UniProt - OMIM)	EDN3	(UniProt - OMIM)
		EDNRB	(UniProt - OMIM)
		SOX10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALX4	(0.63)	SOX10

Citations in the biomedical literature:

Frontonasal dysplasia with alopecia and genital anomaly		Waardenburg-Shah syndrome
	Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality		Synonym(s): - Shah-Waardenburg syndrome - WS4 - Waardenburg syndrome type 4 - Waardenburg-Hirschsprung syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Telecanthus / canthal dystopy

Frontonasal dysplasia with alopecia and genital anomaly		Waardenburg-Shah syndrome
	Very frequent - Alopecia - Anteverted nares / nostrils - Bifid skull - Bifid tip / cleft nose / supernumerary nose - Blepharophimosis / short palpebral fissures - Brachycephaly / flat occiput - Depressed nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Scalp / skull defect - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Fine hair - Frontal bossing / prominent forehead - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Oligoamnios - Tooth shape anomaly		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Autosomal dominant inheritance - Constipation - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Eyebrows anomalies - Hearing loss / hypoacusia / deafness - Intestinal obstruction / ileus - Intestinal / colonic anomaly - Macular pigmentary anomaly / cherry-red spot - Premature greying of hair - White forelock / piebaldism Frequent - Acute abdominal pain / colic - Anomalies of nose and olfaction - Broad nose / nasal bridge - High nasal bridge - Synophris / synophrys - Thin / hypoplastic ala nasi Occasional - Retinitis pigmentosa / retinal pigmentary changes