MCID: SHR063
MIFTS: 25

Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 57 12 75 73
Srtd7 57 12 75
Srps5 57 12 75
Short Rib-Polydactyly Syndrome, Type V 57 13
Short Rib Polydactyly Syndrome 5 29 6
Dysplasia, Thoracic, Short-Rib, Type 7 with or Without Polydactyly ) 40
Short-Rib Thoracic Dysplasia 7 Without Polydactyly 6
Short Rib-Polydactyly Syndrome, Type V; Srps5 57
Short Rib-Polydactyly Syndrome Type 5 59
Short Rib-Polydactyly Syndrome Type V 75
Short Rib-Polydactyly Syndrom Type V 12
Srps Type V 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity of phenotype (some patients have survived beyond 5 years)


HPO:

32
short-rib thoracic dysplasia 7 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

OMIM : 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (614091)

MalaCards based summary : Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly, is also known as srtd7. An important gene associated with Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly is WDR35 (WD Repeat Domain 35). Affiliated tissues include bone, kidney and pancreas, and related phenotypes are hypospadias and renal cyst

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 7 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys.

Related Diseases for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Chest External Features:
narrow chest

Head And Neck Head:
dolichocephaly
scalp edema

Head And Neck Neck:
cystic hygroma

Skeletal Hands:
brachydactyly
syndactyly
postaxial polydactyly
hypoplastic distal phalanges

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
markedly shortened ribs

Head And Neck Mouth:
short lingual frenulum
high-arched palate
cleft palate, posterior
accessory labial frenulae
labiogingival frenulum hypertrophy
more
Head And Neck Teeth:
small teeth
hypoplastic enamel
missing teeth
fused teeth

Genitourinary Kidneys:
hypoplastic kidneys
polycystic kidneys
glomerular cysts
tubular cysts
chronic renal dysfunction/failure

Respiratory Lung:
hypoplastic lungs

Abdomen Pancreas:
pancreatic dysgenesis

Abdomen Gastrointestinal:
gastrointestinal malrotation

Abdomen External Features:
ascites

Skeletal Limbs:
micromelia
mesomelia
short long bones
bowed long bones
absent ossification of radii, ulnae, tibiae, and fibulae

Prenatal Manifestations:
hydrops fetalis

Abdomen Liver:
hepatic fibrosis

Skin Nails Hair Hair:
fine hair
sparse hair

Skeletal Feet:
syndactyly
postaxial polydactyly
absent ossification of middle and distal phalanges

Head And Neck Eyes:
epicanthal folds
sparse to absent eyebrows

Skin Nails Hair Nails:
dysplastic nails

Skeletal Pelvis:
flat acetabular roofs

Genitourinary External Genitalia Male:
hypospadias, mild

AbdomenSpleen:
splenic dysgenesis

Skin Nails Hair Skin:
skin edema


Clinical features from OMIM:

614091

Human phenotypes related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypospadias 32 HP:0000047
2 renal cyst 32 HP:0000107
3 polycystic kidney dysplasia 32 HP:0000113
4 cystic hygroma 32 HP:0000476
5 short ribs 32 HP:0000773
6 narrow chest 32 HP:0000774
7 hypoplastic scapulae 32 HP:0000882
8 syndactyly 32 HP:0001159
9 hydrops fetalis 32 HP:0001789
10 pulmonary hypoplasia 32 HP:0002089
11 short long bone 32 HP:0003026
12 bowing of the long bones 32 HP:0006487
13 thoracic dysplasia 32 HP:0006644
14 polydactyly 32 HP:0010442
15 postaxial polydactyly 32 HP:0100259

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short Rib Polydactyly Syndrome 5 29 WDR35

Anatomical Context for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

41
Bone, Kidney, Pancreas, Brain, Liver, Eye, Heart

Publications for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

Variations for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 WDR35 p.Trp261Arg VAR_065955 rs431905505

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR35 NM_020779.3(WDR35): c.307+214_436+1120del deletion Pathogenic GRCh37 Chromosome 2, 20177392: 20180238
2 WDR35 NM_020779.3(WDR35): c.307+214_436+1120del deletion Pathogenic GRCh38 Chromosome 2, 19977631: 19980477
3 WDR35 NM_001006657.1(WDR35): c.1633C> T (p.Arg545Ter) single nucleotide variant Pathogenic rs387907085 GRCh37 Chromosome 2, 20146256: 20146256
4 WDR35 NM_001006657.1(WDR35): c.1633C> T (p.Arg545Ter) single nucleotide variant Pathogenic rs387907085 GRCh38 Chromosome 2, 19946495: 19946495
5 WDR35 NM_001006657.1(WDR35): c.781T> C (p.Trp261Arg) single nucleotide variant Pathogenic rs431905505 GRCh37 Chromosome 2, 20173425: 20173425
6 WDR35 NM_001006657.1(WDR35): c.781T> C (p.Trp261Arg) single nucleotide variant Pathogenic rs431905505 GRCh38 Chromosome 2, 19973664: 19973664
7 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
8 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh38 Chromosome 2, 19941796: 19941796
9 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh37 Chromosome 2, 20137622: 20137622
10 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh38 Chromosome 2, 19937861: 19937861
11 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh37 Chromosome 2, 20173436: 20173436
12 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh38 Chromosome 2, 19973675: 19973675
13 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh37 Chromosome 2, 20137705: 20137705
14 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh38 Chromosome 2, 19937944: 19937944
15 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh37 Chromosome 2, 20130280: 20130280
16 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh38 Chromosome 2, 19930519: 19930519
17 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh37 Chromosome 2, 20151178: 20151178
18 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh38 Chromosome 2, 19951417: 19951417
19 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh38 Chromosome 2, 19975551: 19975551
20 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh37 Chromosome 2, 20175312: 20175312
21 WDR35 NM_001006657.1(WDR35): c.932G> T (p.Trp311Leu) single nucleotide variant Pathogenic rs200649783 GRCh38 Chromosome 2, 19969556: 19969556
22 WDR35 NM_001006657.1(WDR35): c.932G> T (p.Trp311Leu) single nucleotide variant Pathogenic rs200649783 GRCh37 Chromosome 2, 20169317: 20169317
23 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh38 Chromosome 2, 19941837: 19941869
24 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh37 Chromosome 2, 20141598: 20141630
25 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh38 Chromosome 2, 19960561: 19960561
26 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh37 Chromosome 2, 20160322: 20160322
27 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh37 Chromosome 2, 20174299: 20174299
28 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh38 Chromosome 2, 19974538: 19974538
29 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 20174301: 20174301
30 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 19974540: 19974540
31 WDR35 NM_001006657.1(WDR35): c.1788C> T (p.Val596=) single nucleotide variant Benign rs146130105 GRCh38 Chromosome 2, 19945876: 19945876
32 WDR35 NM_001006657.1(WDR35): c.1788C> T (p.Val596=) single nucleotide variant Benign rs146130105 GRCh37 Chromosome 2, 20145637: 20145637
33 WDR35 NM_001006657.1(WDR35): c.725A> G (p.Glu242Gly) single nucleotide variant Likely benign rs139543775 GRCh38 Chromosome 2, 19974479: 19974479
34 WDR35 NM_001006657.1(WDR35): c.725A> G (p.Glu242Gly) single nucleotide variant Likely benign rs139543775 GRCh37 Chromosome 2, 20174240: 20174240
35 WDR35 NM_001006657.1(WDR35): c.143-18T> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 20182313: 20182313
36 WDR35 NM_001006657.1(WDR35): c.143-18T> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 19982552: 19982552
37 WDR35 NM_001006657.1(WDR35): c.2613G> A (p.Met871Ile) single nucleotide variant Uncertain significance rs201443916 GRCh38 Chromosome 2, 19933479: 19933479
38 WDR35 NM_001006657.1(WDR35): c.2613G> A (p.Met871Ile) single nucleotide variant Uncertain significance rs201443916 GRCh37 Chromosome 2, 20133240: 20133240

Expression for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

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GO Terms for Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly

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