MCID: BRC091
MIFTS: 26
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Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:
Characteristics:Orphanet epidemiological data:58
brachymorphism-onychodysplasia-dysphalangism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; HPO:31Classifications:
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
BOD syndrome is a genetic condition characterized by underdeveloped "pinky" toenails or fingernails, normal intellect to mild intellectual disability , distinct facial features, and short stature . The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation . Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome . The relationship between these syndromes is presently unknown.
MalaCards based summary : Brachymorphism-Onychodysplasia-Dysphalangism Syndrome, also known as bod syndrome, is related to senior-loken syndrome 1 and coffin-siris syndrome 1. An important gene associated with Brachymorphism-Onychodysplasia-Dysphalangism Syndrome is ACTL6A (Actin Like 6A). Affiliated tissues include lung and bone, and related phenotypes are delayed skeletal maturation and wide nasal bridge
More information from OMIM:
113477
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Human phenotypes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:58 31 (show all 45)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:113477 |
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MalaCards organs/tissues related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:40
Lung,
Bone
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Articles related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:
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Search
GEO
for disease gene expression data for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome.
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