dysostosis, Stanescu type

Summary

dysostosis, Stanescu type (MONDO:0007396) is a disease. A subtype of osteosclerosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe)
• Phenotypes (HPO): 36

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

36 HPO clinical features (Orphanet curated; top 36 by frequency):

HPO ID	Term	Frequency
HP:0000158	Macroglossia	Very frequent (80-99%)
HP:0000164	Abnormality of the dentition	Very frequent (80-99%)
HP:0000174	Abnormal palate morphology	Very frequent (80-99%)
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000316	Hypertelorism	Very frequent (80-99%)
HP:0000327	Hypoplasia of the maxilla	Very frequent (80-99%)
HP:0000446	Narrow nasal bridge	Very frequent (80-99%)
HP:0000520	Proptosis	Very frequent (80-99%)
HP:0000682	Abnormality of dental enamel	Very frequent (80-99%)
HP:0000767	Pectus excavatum	Very frequent (80-99%)
HP:0000929	Abnormal skull morphology	Very frequent (80-99%)
HP:0001156	Brachydactyly	Very frequent (80-99%)
HP:0002514	Cerebral calcification	Very frequent (80-99%)
HP:0002650	Scoliosis	Very frequent (80-99%)
HP:0002652	Skeletal dysplasia	Very frequent (80-99%)
HP:0002983	Micromelia	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0004474	Persistent open anterior fontanelle	Very frequent (80-99%)
HP:0005105	Abnormal nasal morphology	Very frequent (80-99%)
HP:0005665	Massively thickened long bone cortices	Very frequent (80-99%)
HP:0006487	Bowing of the long bones	Very frequent (80-99%)
HP:0010669	Hypoplasia of the zygomatic bone	Very frequent (80-99%)
HP:0011001	Increased bone mineral density	Very frequent (80-99%)
HP:0011800	Midface retrusion	Very frequent (80-99%)
HP:0012368	Flat face	Very frequent (80-99%)
HP:0000248	Brachycephaly	Frequent (30-79%)
HP:0000670	Carious teeth	Frequent (30-79%)
HP:0002808	Kyphosis	Frequent (30-79%)
HP:0003307	Hyperlordosis	Frequent (30-79%)
HP:0009804	Tooth agenesis	Frequent (30-79%)
HP:0000444	Convex nasal ridge	Occasional (5-29%)
HP:0000470	Short neck	Occasional (5-29%)
HP:0000944	Abnormal metaphysis morphology	Occasional (5-29%)
HP:0002645	Wormian bones	Occasional (5-29%)
HP:0005930	Abnormality of epiphysis morphology	Occasional (5-29%)
HP:0100777	Exostoses	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	dysostosis, Stanescu type
Mondo ID	MONDO:0007396
MeSH	C562974
OMIM	122900
Orphanet	1798
SNOMED CT	254124008
UMLS	C0432263
MedGen	140931
GARD	0002016
Is cancer (heuristic)	no

Also known as: autosomal dominant osteosclerosis, Stanescu type · craniofacial dysostosis-diaphyseal hyperplasia syndrome · dysostosis Stanescu type · Stanescu osteosclerosis

Disease family

This is a subtype of osteosclerosis. 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 remodeling disease › osteosclerosis › dysostosis, Stanescu type

Related subtypes (2): osteopoikilosis, familial osteosclerosis

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.