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Syndesmodysplasic dwarfism

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Familial syndesmodysplasic dwarfism; Laplane Fontaine Lagardere syndrome; Syndesmodysplasic Dwarfism
Monarch Initiative: MONDO:0010093
OMIM®: 272450
Orphanet: ORPHA2654

Clinical features

From HPO
Severe short stature
MedGen UID:
Concept ID:
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Joint stiffness
MedGen UID:
Concept ID:
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.

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