Thakker-Donnai syndrome

Summary

Thakker-Donnai syndrome (MONDO:0009202) is a disease. A subtype of hereditary lethal multiple congenital anomalies/dysmorphic syndrome — 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): 25

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)

25 HPO clinical features (Orphanet curated; top 25 by frequency):

HPO ID	Term	Frequency
HP:0000160	Narrow mouth	Very frequent (80-99%)
HP:0000316	Hypertelorism	Very frequent (80-99%)
HP:0000358	Posteriorly rotated ears	Very frequent (80-99%)
HP:0000414	Bulbous nose	Very frequent (80-99%)
HP:0000463	Anteverted nares	Very frequent (80-99%)
HP:0000465	Webbed neck	Very frequent (80-99%)
HP:0000470	Short neck	Very frequent (80-99%)
HP:0000582	Upslanted palpebral fissure	Very frequent (80-99%)
HP:0000637	Long palpebral fissure	Very frequent (80-99%)
HP:0001252	Hypotonia	Very frequent (80-99%)
HP:0002714	Downturned corners of mouth	Very frequent (80-99%)
HP:0002937	Hemivertebrae	Very frequent (80-99%)
HP:0004602	Cervical C2/C3 vertebral fusion	Very frequent (80-99%)
HP:0000126	Hydronephrosis	Frequent (30-79%)
HP:0000143	Rectovaginal fistula	Frequent (30-79%)
HP:0000400	Macrotia	Frequent (30-79%)
HP:0000776	Congenital diaphragmatic hernia	Frequent (30-79%)
HP:0001274	Agenesis of corpus callosum	Frequent (30-79%)
HP:0001334	Communicating hydrocephalus	Frequent (30-79%)
HP:0001511	Intrauterine growth retardation	Frequent (30-79%)
HP:0001629	Ventricular septal defect	Frequent (30-79%)
HP:0001636	Tetralogy of Fallot	Frequent (30-79%)
HP:0001669	Transposition of the great arteries	Frequent (30-79%)
HP:0002023	Anal atresia	Frequent (30-79%)
HP:0002575	Tracheoesophageal fistula	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Thakker-Donnai syndrome
Mondo ID	MONDO:0009202
MeSH	C536503
OMIM	227255
Orphanet	1780
UMLS	C1856892
MedGen	346465
GARD	0005158
Is cancer (heuristic)	no

Also known as: dysmorphic facial features and multiple structural abnormalities · Dysmorphism multiple structural anomalies · Dysmorphism-multiple structural anomalies syndrome

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › hereditary lethal multiple congenital anomalies/dysmorphic syndrome › Thakker-Donnai syndrome

Related subtypes (9): Edinburgh malformation syndrome, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Stromme syndrome, Bartsocas-Papas syndrome 1, endocrine-cerebro-osteodysplasia syndrome, lethal polymalformative syndrome, Boissel type, lethal hydranencephaly-diaphragmatic hernia syndrome, Meckel syndrome, microphthalmia microtia fetal akinesia

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.