Diastrophic dwarfism
http://www.orpha.net/ORDO/Orphanet_628
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Synonyms: Diastrophic dysplasia
Term info
database cross reference
- OMIM:222600 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:Q77.5 (Specific code (The term has its own code in the ICD10))
- UMLS:C0220726 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:Q77.5 (E (exact mapping (the terms and the concepts are equivalent)))
definition citation
orphanet
hasDbXref
OMIM:222600, ICD-10:Q77.5, UMLS:C0220726
notation
ORPHA:628
Term relations
Subclass of:
- disease
- present_in some Europe and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.3
- part_of some Primary bone dysplasia with micromelia
- present_in some Finland and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 3.03
- has_inheritance some autosomal recessive
- part_of some Sulfation-related bone disorder
- has_age_of_onset some neonatal
- present_in some Europe and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 1.2