ODCs

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1 OMIM reference -
3 associated genes
3 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
29 signs/symptoms

Potocki-Shaffer syndrome

Frontonasal dysplasia with alopecia and genital anomaly

Citations in the biomedical literature:

Potocki-Shaffer syndrome		Frontonasal dysplasia with alopecia and genital anomaly
	Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome		Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: no data available Type of inheritance: unknown		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538356		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Potocki-Shaffer syndrome		Frontonasal dysplasia with alopecia and genital anomaly
	Very frequent - Exostoses - Poorly ossified skull / calvarium		Very frequent - Alopecia - Anteverted nares / nostrils - Autosomal recessive inheritance - Bifid skull - Bifid tip / cleft nose / supernumerary nose - Blepharophimosis / short palpebral fissures - Brachycephaly / flat occiput - Depressed nasal bridge - Hypertelorism - Late puberty / hypogonadism / hypogenitalism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Scalp / skull defect - Strabismus / squint - Telecanthus / canthal dystopy - 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