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
This is just here as a test because I lose it
Term information
database cross reference
- OMIM:222600 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q77.5 (Specific code (The ORPHA code has its own code in the ICD10))
- ICD-10:Q77.5 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0220726 (E (Exact mapping: the two concepts are equivalent))
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