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brachyolmia type 1, Hobaek type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachyolmia type 1, Hobaek type

MONDO:0010070

Also known as:BCYM1Abrachyolmia, recessive type of Hobaekspondylodysplasia with Pure brachyolmia

Overview

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Irregular vertebral endplates, Disproportionate short-trunk short stature, Increased upper to lower segment ratio, and Platyspondyly and others; and common findings: Lumbar hypolordosis, Excessive outward curvature of the upper spine (kyphosis), Back pain, and Thoracic scoliosis. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8

Prognosis

Phenotype severity distribution: 5 always present features, 4 common features.

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271530

Orphanet

European rare disease database

Orphanet:93301

GARD

Genetic and Rare Diseases Info Center

GARD:995

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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brachyolmia type 1, Hobaek type

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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