mesomelic dwarfism, Nievergelt type

Summary

mesomelic dwarfism, Nievergelt type (MONDO:0008098) 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): 26

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		19	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0001376	Limitation of joint mobility	Very frequent (80-99%)
HP:0002857	Genu valgum	Very frequent (80-99%)
HP:0002974	Radioulnar synostosis	Very frequent (80-99%)
HP:0002983	Micromelia	Very frequent (80-99%)
HP:0002991	Abnormal fibula morphology	Very frequent (80-99%)
HP:0002992	Abnormality of tibia morphology	Very frequent (80-99%)
HP:0003027	Mesomelia	Very frequent (80-99%)
HP:0003042	Elbow dislocation	Very frequent (80-99%)
HP:0006501	Aplasia/Hypoplasia of the radius	Very frequent (80-99%)
HP:0008368	Tarsal synostosis	Very frequent (80-99%)
HP:0008845	Mesomelic short stature	Very frequent (80-99%)
HP:0010781	Skin dimple	Very frequent (80-99%)
HP:0040071	Abnormal morphology of ulna	Very frequent (80-99%)
HP:0100490	Camptodactyly of finger	Very frequent (80-99%)
HP:0000248	Brachycephaly	Occasional (5-29%)
HP:0000268	Dolichocephaly	Occasional (5-29%)
HP:0000486	Strabismus	Occasional (5-29%)
HP:0000960	Sacral dimple	Occasional (5-29%)
HP:0001249	Intellectual disability	Occasional (5-29%)
HP:0002650	Scoliosis	Occasional (5-29%)
HP:0002970	Genu varum	Occasional (5-29%)
HP:0003019	Abnormality of the wrist	Occasional (5-29%)
HP:0004209	Clinodactyly of the 5th finger	Occasional (5-29%)
HP:0006101	Finger syndactyly	Occasional (5-29%)
HP:0007598	Bilateral single transverse palmar creases	Occasional (5-29%)
HP:0100729	Large face	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mesomelic dwarfism, Nievergelt type
Mondo ID	MONDO:0008098
MeSH	C536120
OMIM	163400
Orphanet	2633
ICD-11	2034257092
SNOMED CT	33979003
UMLS	C0432231
MedGen	98478
GARD	0003554
Is cancer (heuristic)	no

Also known as: mesomelic dwarfism Nievergelt type · Nievergelt syndrome · radioulnar synostosis and a typical rhomboid shape of the tibia and fibula

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 › mesomelic dwarfism, Nievergelt type

Related subtypes (5): mesomelic dysplasia, Kantaputra type, mesomelic dwarfism, Reinhardt-Pfeiffer type, upper limb mesomelic dysplasia, 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.