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Frontonasal dysplasia with alopecia and genital anomaly

1 OMIM reference -
1 associated gene
24 connected diseases
29 signs/symptoms

Disease	Type of connection
Isolated scaphocephaly
Parietal foramina
Potocki-Shaffer syndrome
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Anophthalmia / microphthalmia - esophageal atresia
Atrial septal defect, ostium secundum type
Colobomatous microphthalmia
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Familial prostate cancer
Isolated anophthalmia - microphthalmia
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Partial atrioventricular canal
Recurrent infection due to specific granule deficiency
Septo-optic dysplasia
Single ventricular septal defect
Tetralogy of Fallot
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

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 genetic disease - Rare skin disease		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		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
ALX4	Q9H161	605420

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
- Frontal bossing / prominent forehead
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Oligoamnios
- Tooth shape anomaly