ODCs

Click node...

Frontonasal dysplasia with alopecia and genital anomaly

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

8p23.1 microdeletion syndrome

1 associated gene
37 signs/symptoms

Frontonasal dysplasia with alopecia and genital anomaly

8p23.1 microdeletion syndrome

ALX4

(UniProt - OMIM)

GATA4

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALX4	(0.63)	GATA4

Citations in the biomedical literature:

Frontonasal dysplasia with alopecia and genital anomaly		8p23.1 microdeletion syndrome
	Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality		Synonym(s): - Del(8)(p23.1) - Monosomy 8p23.1

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Undescended / ectopic testes / cryptorchidia / unfixed testes

Frontonasal dysplasia with alopecia and genital anomaly		8p23.1 microdeletion syndrome
	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 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 - Low set ears / posteriorly rotated ears - Oligoamnios - Tooth shape anomaly		Very frequent - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion Frequent - Atrioventricular canal - Broad nose / nasal bridge - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypospadias / epispadias / bent penis - Microcephaly - Narrow forehead - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Seizures / epilepsy / absences / spasms / status epilepticus - Short neck - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad / bifid big toe - Broad / bifid thumb - Cardiomyopathy / hypertrophic / dilated - Deepset eyes / enophthalmos - Diaphragmatic hernia / defect / agenesis - Generalized obesity - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Patent ductus arteriosus - Proximally set thumb - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels