Bone dysplasia lethal Holmgren type
Don’t fight Bone dysplasia lethal Holmgren type alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Bone dysplasia lethal Holmgren type and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1842
Definition
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non- consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Connect with other users with Bone dysplasia lethal Holmgren type on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
