Autosomal recessive distal osteolysis syndrome

Summary

Autosomal recessive distal osteolysis syndrome (MONDO:0009810) is a disease. A subtype of primary osteolysis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 9

Clinical features

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0000164	Abnormality of the dentition	Very frequent (80-99%)
HP:0000327	Hypoplasia of the maxilla	Very frequent (80-99%)
HP:0000455	Broad nasal tip	Very frequent (80-99%)
HP:0000520	Proptosis	Very frequent (80-99%)
HP:0001256	Intellectual disability, mild	Very frequent (80-99%)
HP:0002797	Osteolysis	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0009882	Short distal phalanx of finger	Very frequent (80-99%)
HP:0011800	Midface retrusion	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	autosomal recessive distal osteolysis syndrome
Mondo ID	MONDO:0009810
MeSH	C536052
OMIM	259610
Orphanet	2776
ICD-11	1878981266
SNOMED CT	715487005
UMLS	C1850143
MedGen	376714
GARD	0004299
Is cancer (heuristic)	no

Also known as: distal osteolysis-short stature-intellectual disability syndrome · osteolysis syndrome recessive · osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance · osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance · osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance · Petit-Fryns syndrome

Disease family

This is a subtype of primary osteolysis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › skeletal dysplasia › primary osteolysis › autosomal recessive distal osteolysis syndrome

Related subtypes (13): acroosteolysis, multicentric carpo-tarsal osteolysis with or without nephropathy, pacman dysplasia, familial expansile osteolysis, Hutchinson-Gilford progeria syndrome, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, hyaline fibromatosis syndrome, Paget disease of bone 2, early-onset, talo-patello-scaphoid osteolysis, Nestor-Guillermo progeria syndrome, mandibuloacral dysplasia, phalangeal microgeodic syndrome, multicentric osteolysis-nodulosis-arthropathy spectrum

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.