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Lethal osteosclerotic bone dysplasia
1 OMIM reference -
1 associated gene
7 connected diseases
20 signs/symptoms
Disease Type of connection
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Panhypopituitarism
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Synonym(s):
- Raine syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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
FAM20C Q8IXL6611061
Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Cleft lip and palate
- Exaggerated cupid bows
- Flared chest / bell-shaped thorax / shield chest
- Flattened nose
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Osteosclerosis / osteopetrosis / bone condensation
- Short neck
- Stillbirth / neonatal death

Frequent
- Hypoplastic mandibula / partial absence of the mandibula
- Intrauterine growth retardation
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Short / small nose
- Thickened / hypertrophic / fibromatous gingivae