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). Autosomal recessive inheritance (Orphanet)

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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThakker-Donnai syndrome

Hereditary lethal multiple congenital anomalies/dysmorphic syndrome
- Thakker-Donnai syndrome

Recent clinical studies

Etiology

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

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: 29523172 Free PMC Article

Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome.

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: 21658862 Free PMC Article

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Diagnosis

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

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

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.

Zhang Q, Chen S, Qin Z, Zheng H, Fan X
Medicine (Baltimore) 2020 Apr;99(15):e19751. doi: 10.1097/MD.0000000000019751. PMID: 32282736 Free PMC Article

A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.

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

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S
Int J Hematol 2017 Apr;105(4):515-520. Epub 2016 Nov 23 doi: 10.1007/s12185-016-2151-7. PMID: 27882484

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