Symphalangism with multiple anomalies of hands and feet

Summary

Symphalangism with multiple anomalies of hands and feet (MONDO:0008510) is a disease. A subtype of symphalangism — 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): 22

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		6	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

22 HPO clinical features (Orphanet curated; top 22 by frequency):

HPO ID	Term	Frequency
HP:0004197	Symphalangism of the 4th finger	Very frequent (80-99%)
HP:0004218	Symphalangism of the 5th finger	Very frequent (80-99%)
HP:0006019	Reduced proximal interphalangeal joint space	Very frequent (80-99%)
HP:0000256	Macrocephaly	Frequent (30-79%)
HP:0001032	Absent distal interphalangeal creases	Frequent (30-79%)
HP:0001156	Brachydactyly	Frequent (30-79%)
HP:0001245	Small thenar eminence	Frequent (30-79%)
HP:0001770	Toe syndactyly	Frequent (30-79%)
HP:0005807	Absent distal phalanges	Frequent (30-79%)
HP:0006101	Finger syndactyly	Frequent (30-79%)
HP:0007477	Abnormal dermatoglyphics	Frequent (30-79%)
HP:0009700	Finger symphalangism	Frequent (30-79%)
HP:0010179	Symphalangism affecting the phalanges of the toes	Frequent (30-79%)
HP:0010182	Abnormality of the distal phalanges of the toes	Frequent (30-79%)
HP:0010487	Small hypothenar eminence	Frequent (30-79%)
HP:0030084	Clinodactyly	Frequent (30-79%)
HP:0000405	Conductive hearing impairment	Occasional (5-29%)
HP:0001018	Abnormal palmar dermatoglyphics	Occasional (5-29%)
HP:0005650	2-5 finger cutaneous syndactyly	Occasional (5-29%)
HP:0006143	Abnormal finger flexion creases	Occasional (5-29%)
HP:0010103	Short distal phalanx of hallux	Occasional (5-29%)
HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	symphalangism with multiple anomalies of hands and feet
Mondo ID	MONDO:0008510
MeSH	C566098
OMIM	185750
Orphanet	3246
SNOMED CT	732955001
UMLS	C1861391
MedGen	348859
GARD	0005077
Is cancer (heuristic)	no

Also known as: Learman syndrome · symphalangism with multiple anomalies of hands and feet

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › symphalangism › symphalangism with multiple anomalies of hands and feet

Related subtypes (5): symphalangism of toes, symphalangism, C. S. Lewis type, distal symphalangism, proximal symphalangism, NOG-related symphalangism spectrum disorder

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.