lethal Kniest-like dysplasia
disease diseaseOn this page
Also known as arthrosis, flat face, hypotonia, short neck and macrocephalyKniest like dysplasia lethal
Summary
lethal Kniest-like dysplasia (MONDO:0009498) is a disease. A subtype of osteochondrodysplasia — 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): 27
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
27 HPO clinical features (Orphanet curated; top 27 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Frequent (30-79%) |
| HP:0000256 | Macrocephaly | Frequent (30-79%) |
| HP:0000260 | Wide anterior fontanel | Frequent (30-79%) |
| HP:0000369 | Low-set ears | Frequent (30-79%) |
| HP:0000470 | Short neck | Frequent (30-79%) |
| HP:0000773 | Short ribs | Frequent (30-79%) |
| HP:0000774 | Narrow chest | Frequent (30-79%) |
| HP:0000907 | Anterior rib cupping | Frequent (30-79%) |
| HP:0000926 | Platyspondyly | Frequent (30-79%) |
| HP:0000946 | Hypoplastic ilia | Frequent (30-79%) |
| HP:0000969 | Edema | Frequent (30-79%) |
| HP:0001156 | Brachydactyly | Frequent (30-79%) |
| HP:0001538 | Protuberant abdomen | Frequent (30-79%) |
| HP:0001561 | Polyhydramnios | Frequent (30-79%) |
| HP:0001623 | Breech presentation | Frequent (30-79%) |
| HP:0001631 | Atrial septal defect | Frequent (30-79%) |
| HP:0001762 | Talipes equinovarus | Frequent (30-79%) |
| HP:0002763 | Abnormal cartilage morphology | Frequent (30-79%) |
| HP:0003015 | Flared metaphysis | Frequent (30-79%) |
| HP:0003174 | Abnormality of the ischium | Frequent (30-79%) |
| HP:0003417 | Coronal cleft vertebrae | Frequent (30-79%) |
| HP:0005026 | Mesomelic/rhizomelic limb shortening | Frequent (30-79%) |
| HP:0005622 | Broad long bones | Frequent (30-79%) |
| HP:0008178 | Abnormal cartilage matrix | Frequent (30-79%) |
| HP:0008479 | Hypoplastic vertebral bodies | Frequent (30-79%) |
| HP:0008890 | Severe short-limb dwarfism | Frequent (30-79%) |
| HP:0012368 | Flat face | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lethal Kniest-like dysplasia |
| Mondo ID | MONDO:0009498 |
| MeSH | C537208 |
| OMIM | 245190 |
| Orphanet | 2347 |
| UMLS | C1855605 |
| MedGen | 383721 |
| GARD | 0003124 |
| Is cancer (heuristic) | no |
Also known as: arthrosis, flat face, hypotonia, short neck and macrocephaly · Kniest like dysplasia lethal
Disease family
This is a subtype of osteochondrodysplasia. 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 body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › osteochondrodysplasia › lethal Kniest-like dysplasia
Related subtypes (49): atelosteogenesis, midface dysplasia, Kashin-Beck disease, achondroplasia, Boomerang dysplasia, campomelic dysplasia, cleidocranial dysplasia 1, Leri-Weill dyschondrosteosis, hypochondroplasia, metaphyseal chondrodysplasia, Jansen type, Schmid metaphyseal chondrodysplasia, Kniest dysplasia, pseudoachondroplasia, ulna metaphyseal dysplasia syndrome, acheiropody, microcephalic osteodysplastic primordial dwarfism type I, microcephalic osteodysplastic primordial dwarfism type II, bone dysplasia, lethal Holmgren type, cleidocranial dysplasia, recessive form, diastrophic dysplasia, hypertrichotic osteochondrodysplasia Cantu type, metaphyseal chondrodysplasia, Kaitila type, metaphyseal chondrodysplasia, Spahr type, metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, pycnodysostosis, pyknoachondrogenesis, Pyle disease, schneckenbecken dysplasia, mesomelia-synostoses syndrome, lethal chondrodysplasia, Seller type, acrocapitofemoral dysplasia, brachyolmia, Desbuquois dysplasia, fibrochondrogenesis, multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia, thanatophoric dysplasia, Blount disease, osteogenesis imperfecta, achondrogenesis, acromesomelic dysplasia, neonatal osteosclerotic dysplasia, Akaba Hayasaka syndrome, Fairbank disease, mesomelic dysplasia, spondyloepimetaphyseal dysplasia, cleidocranial dysplasia 2, arterial tortuosity-bone fragility syndrome, linkeropathy
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.