ODCs

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3 OMIM references -
3 associated genes
5 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
29 signs/symptoms

Isolated scaphocephaly

Frontonasal dysplasia with alopecia and genital anomaly

Citations in the biomedical literature:

Isolated scaphocephaly		Frontonasal dysplasia with alopecia and genital anomaly
	Synonym(s): - Isolated dolichocephaly - Non-syndromic sagittal synostosis		Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		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: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Frontal bossing / prominent forehead

Isolated scaphocephaly		Frontonasal dysplasia with alopecia and genital anomaly
	Very frequent - Dolichocephaly / scaphocephaly Occasional - Autosomal dominant inheritance - Cranial hypertension - Prominent occiput / occipital bossing		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 - 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 - 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 - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Oligoamnios - Tooth shape anomaly