Details of Disease

General Information of Disease (ID: DISO1IT9)

Disease Name Osteocraniostenosis
Synonyms Habrodysplasia; skeletal dysplasia lethal with gracile bones; skeletal dysplasia, lethal, with gracile bones; GCLEB; osteocraniostenosis; gracile bone dysplasia; Osteocraniosplenic syndrome
Definition
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DISO1IT9: Osteocraniostenosis
Disease Identifiers
MONDO ID
MONDO_0011215
MESH ID
C537291
UMLS CUI
C1865639
OMIM ID
602361
MedGen ID
356331
Orphanet ID
2763
SNOMED CT ID
722109008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAM111A OTVLARLG Strong Autosomal dominant [1]
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References

1 FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16.