Table 2a.

Selected Genes Associated With M-SDV (SCDO and STD excluded)

Gene(s)MOISyndrome/Disorder
ACVR1 AD Fibrodysplasia ossificans progressiva
ANKRD11 1See footnote 1. KBG syndrome
CHD7 ADCHD7 disorder (incl CHARGE syndrome)
CHRNG ARMultiple pterygium syndrome, Escobar variant (OMIM 265000)
DHODH ARPostaxial acrofacial dysostosis (OMIM 263750)
FLNB ADAtelosteogenesis type III (See FLNB Disorders.)
ADLarsen syndrome (See FLNB Disorders.)
ARSpondylocarpotarsal synostosis syndrome (See FLNB Disorders.)
GDF3 ADKlippel-Feil syndrome/anomaly (OMIM PS118100)
GDF6 AD
MEOX1 AR
GPC3 XL Simpson-Golabi-Behmel syndrome type 1
GPC4 XL
HSPG2 ARDyssegmental dysplasia, Silverman-Handmaker type (OMIM 224410)
IKBKG XL Incontinentia pigmenti
JAG1 AD Alagille syndrome
NOTCH2 AD
KMT2D AD Kabuki syndrome
KDM6A XL
MKKS AR McKusick-Kaufman syndrome
MNX1 ADCurrarino syndrome (OMIM 176450)
PUF60 ADVerheij syndrome (OMIM 615583)
RECQL4 ARRAPADILINO syndrome (OMIM 266280)
ROR2 AR ROR2-related Robinow syndrome
SF3B2 ADGoldenhar syndrome / oculo-auriculo-vertebral spectrum (OMIM 164210)
SLC26A2 ARAtelosteogenesis type II (de la Chapelle dysplasia)
SOX9 AD Campomelic dysplasia
TBX6 ADMüllerian aplasia / MURCS association / Mayer-Rokitansky-Kuster-Hauser syndrome (See Genetically Related Disorders.)
WNT9B 2ADMayer-Rokitansky-Kuster-Hauser syndrome
TMCO1 ARCerebro-facio-thoracic dysplasia (OMIM 213980)
VANGL1 ADCaudal dysgenesis syndrome
WNT5A AD Autosomal dominant Robinow syndrome

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; M-SDV = multiple segmentation defects of the vertebrae; RAPADILINO = radial ray defect, patellae hypoplasia or aplasia and cleft or highly arched palate, diarrhea and dislocated joints, little size and limb malformation, nose slender and normal intelligence; SCDO = spondylocostal dysostosis; STD = spondylothoracic dysostosis; XL = X-linked

1.

KBG syndrome is caused by either a heterozygous pathogenic variant in ANKRD11 or deletion of 16q24.3 that includes ANKRD11. Recurrence risk for sibs of a proband with KBG syndrome depends on the genetic alteration.

2.

From: Spondylocostal Dysostosis, Autosomal Recessive

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