Synonym(s): - Accelerated skeletal maturation - peculiar facies - failure to thrive
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown		External references: 1 OMIM reference - See 1 MeSH reference: C536026
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
NFIX	Q14938	164005

- Advanced bone age
- Anteverted nares / nostrils
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thin skin

- Blue sclerae
- Conductive deafness / hearing loss
- Death in infancy
- Ecchymoses
- Hirsutism / hypertrichosis / Increased body hair
- Hypertelorism
- Laryngomalacia
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mouth held open
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis
- Short / small nose
- Stillbirth / neonatal death

- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Congenital cardiac anomaly / malformation / cardiopathy
- Craniostenosis / craniosynostosis / sutural synostosis
- Dilated cerebral ventricles without hydrocephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Thickened / hypertrophic / fibromatous gingivae