Thoracic dysplasia-hydrocephalus syndrome

Summary

Thoracic dysplasia-hydrocephalus syndrome (MONDO:0010115) is a disease. A subtype of thoracic malformation — 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): 13

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)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO ID	Term	Frequency
HP:0000774	Narrow chest	Very frequent (80-99%)
HP:0001334	Communicating hydrocephalus	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0009826	Limb undergrowth	Very frequent (80-99%)
HP:0000405	Conductive hearing impairment	Frequent (30-79%)
HP:0000457	Depressed nasal ridge	Frequent (30-79%)
HP:0000944	Abnormal metaphysis morphology	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001263	Global developmental delay	Frequent (30-79%)
HP:0002878	Respiratory failure	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	thoracic dysplasia-hydrocephalus syndrome
Mondo ID	MONDO:0010115
MeSH	C564774
OMIM	273730
Orphanet	1861
UMLS	C1848864
MedGen	338562
GARD	0005180
Is cancer (heuristic)	no

Also known as: thoracic dysplasia hydrocephalus syndrome · thoracic dysplasia-hydrocephalus syndrome

Disease family

This is a subtype of thoracic malformation. 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 › respiratory system disorder › respiratory or thoracic malformation › thoracic malformation › thoracic dysplasia-hydrocephalus syndrome

Related subtypes (14): Acropectorovertebral dysplasia, congenitally short costocoracoid ligament, Sprengel deformity, thoracolaryngopelvic dysplasia, fetal akinesia deformation sequence, lethal congenital contracture syndrome 1, orofaciodigital syndrome IV, thoracomelic dysplasia, Matthew-Wood syndrome, NEK9-related lethal skeletal dysplasia, short rib-polydactyly syndrome, shoulder and thorax deformity-congenital heart disease syndrome, sternal cleft, ossification anomalies-psychomotor developmental delay syndrome

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.