Pyknoachondrogenesis

Summary

Pyknoachondrogenesis (MONDO:0009942) 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): 23

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		5	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0000369	Low-set ears	Frequent (30-79%)
HP:0000457	Depressed nasal ridge	Frequent (30-79%)
HP:0000465	Webbed neck	Frequent (30-79%)
HP:0000773	Short ribs	Frequent (30-79%)
HP:0000888	Horizontal ribs	Frequent (30-79%)
HP:0002694	Sclerosis of skull base	Frequent (30-79%)
HP:0002983	Micromelia	Frequent (30-79%)
HP:0003026	Short long bone	Frequent (30-79%)
HP:0003175	Hypoplastic ischia	Frequent (30-79%)
HP:0003270	Abdominal distention	Frequent (30-79%)
HP:0004493	Craniofacial hyperostosis	Frequent (30-79%)
HP:0008817	Aplastic pubic bones	Frequent (30-79%)
HP:0010306	Short thorax	Frequent (30-79%)
HP:0011338	Abnormality of mouth shape	Frequent (30-79%)
HP:0011867	Abnormality of the wing of the ilium	Frequent (30-79%)
HP:0012790	Abnormal intramembranous ossification	Frequent (30-79%)
HP:0030290	Unossified sacrum	Frequent (30-79%)
HP:0040194	Increased head circumference	Frequent (30-79%)
HP:0100540	Palpebral edema	Frequent (30-79%)
HP:0100625	Enlarged thorax	Frequent (30-79%)
HP:0100748	Muscular edema	Frequent (30-79%)
HP:0100856	Poorly ossified vertebrae	Frequent (30-79%)
HP:0100866	Short iliac bones	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pyknoachondrogenesis
Mondo ID	MONDO:0009942
MeSH	C536251
OMIM	265880
Orphanet	3003
ICD-11	588435239
SNOMED CT	719258003
UMLS	C1849523
MedGen	337844
GARD	0004610
Is cancer (heuristic)	no

Also known as: association of skeletal defects resembling achondrogenesis with generalised bone sclerosis · association of skeletal defects resembling achondrogenesis with generalized bone sclerosis · camera syndrome · pyknoachondrogenesis

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 › pyknoachondrogenesis

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, lethal Kniest-like dysplasia, metaphyseal chondrodysplasia, Kaitila type, metaphyseal chondrodysplasia, Spahr type, metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, pycnodysostosis, 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.