Upper limb mesomelic dysplasia

Summary

Upper limb mesomelic dysplasia (MONDO:0008620) is a disease. A subtype of mesomelic dysplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 3

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		4	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

3 HPO clinical features (Orphanet curated; top 3 by frequency):

HPO ID	Term	Frequency
HP:0002986	Radial bowing	Very frequent (80-99%)
HP:0003022	Hypoplasia of the ulna	Very frequent (80-99%)
HP:0009465	Ulnar deviation of finger	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	upper limb mesomelic dysplasia
Mondo ID	MONDO:0008620
MeSH	C538069
OMIM	191440
Orphanet	2497
ICD-11	2013121778
UMLS	C5574958
MedGen	1811806
GARD	0002408
Is cancer (heuristic)	no

Also known as: Fryns Hofkens Fabry syndrome · Fryns-Hofkens-Fabry syndrome · upper limb mesomelic dysplasia

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › mesomelic dysplasia › upper limb mesomelic dysplasia

Related subtypes (5): mesomelic dysplasia, Kantaputra type, mesomelic dwarfism, Nievergelt type, mesomelic dwarfism, Reinhardt-Pfeiffer type, Langer mesomelic dysplasia, mesomelic dysplasia, Savarirayan type

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.