U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thakker-Donnai syndrome

MedGen UID:
346465
Concept ID:
C1856892
Disease or Syndrome
Synonyms: Dysmorphic facial features and multiple structural abnormalities; Dysmorphism multiple structural anomalies; Facial dysmorphism with multiple malformations
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009202
OMIM®: 227255
Orphanet: ORPHA1780

Definition

Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThakker-Donnai syndrome

Recent clinical studies

Therapy

May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M, Buckley D, Hoyme HE
Drug Alcohol Depend 2011 Dec 1;119(1-2):18-27. Epub 2011 Jun 11 doi: 10.1016/j.drugalcdep.2011.05.009. PMID: 21658862Free PMC Article

Prognosis

Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S
Am J Med Genet A 2021 Apr;185(4):1081-1090. Epub 2021 Jan 6 doi: 10.1002/ajmg.a.62065. PMID: 33403770
Miller DE, Squire A, Bennett JT
Am J Med Genet A 2020 Mar;182(3):543-547. Epub 2019 Dec 8 doi: 10.1002/ajmg.a.61442. PMID: 31814264
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L
Ital J Pediatr 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. PMID: 29523172Free PMC Article
May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M, Buckley D, Hoyme HE
Drug Alcohol Depend 2011 Dec 1;119(1-2):18-27. Epub 2011 Jun 11 doi: 10.1016/j.drugalcdep.2011.05.009. PMID: 21658862Free PMC Article

Clinical prediction guides

Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S
Am J Med Genet A 2021 Apr;185(4):1081-1090. Epub 2021 Jan 6 doi: 10.1002/ajmg.a.62065. PMID: 33403770
Miller DE, Squire A, Bennett JT
Am J Med Genet A 2020 Mar;182(3):543-547. Epub 2019 Dec 8 doi: 10.1002/ajmg.a.61442. PMID: 31814264
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L
Ital J Pediatr 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. PMID: 29523172Free PMC Article
May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M, Buckley D, Hoyme HE
Drug Alcohol Depend 2011 Dec 1;119(1-2):18-27. Epub 2011 Jun 11 doi: 10.1016/j.drugalcdep.2011.05.009. PMID: 21658862Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...