SRTD20
MCID: SHR116
MIFTS: 24

Short-Rib Thoracic Dysplasia 20 with Polydactyly (SRTD20)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 20 with Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 20 with Polydactyly:

Name: Short-Rib Thoracic Dysplasia 20 with Polydactyly 57 72 29 6
Srtd20 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated march 2018)
polydactyly consisting of 8 to 10 digits per extremity
neonatal demise


HPO:

31
short-rib thoracic dysplasia 20 with polydactyly:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 20 with 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). (617925) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 20 with Polydactyly, is also known as srtd20. An important gene associated with Short-Rib Thoracic Dysplasia 20 with Polydactyly is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include eye, pancreas and tongue, and related phenotypes are short neck and micrognathia

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 20 with 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.

Related Diseases for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 20 with Polydactyly:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 short neck 31 very rare (1%) HP:0000470
2 micrognathia 31 very rare (1%) HP:0000347
3 low-set ears 31 very rare (1%) HP:0000369
4 anal atresia 31 very rare (1%) HP:0002023
5 micropenis 31 very rare (1%) HP:0000054
6 tetralogy of fallot 31 very rare (1%) HP:0001636
7 wide anterior fontanel 31 very rare (1%) HP:0000260
8 decreased calvarial ossification 31 very rare (1%) HP:0005474
9 hypoplastic pubic bone 31 very rare (1%) HP:0003173
10 fibular hypoplasia 31 very rare (1%) HP:0003038
11 short tibia 31 very rare (1%) HP:0005736
12 uterus didelphys 31 very rare (1%) HP:0003762
13 hamartoma of tongue 31 very rare (1%) HP:0011802
14 septate vagina 31 very rare (1%) HP:0001153
15 natal tooth 31 very rare (1%) HP:0000695
16 preaxial polydactyly 31 very rare (1%) HP:0100258
17 postaxial polydactyly 31 very rare (1%) HP:0100259
18 cleft lip 31 very rare (1%) HP:0410030
19 complete atrioventricular canal defect 31 very rare (1%) HP:0001674
20 frontal bossing 31 HP:0002007
21 depressed nasal bridge 31 HP:0005280
22 hypertelorism 31 HP:0000316
23 microtia 31 HP:0008551
24 brachycephaly 31 HP:0000248
25 cleft palate 31 HP:0000175
26 wide intermamillary distance 31 HP:0006610
27 low posterior hairline 31 HP:0002162
28 microphthalmia 31 HP:0000568
29 narrow chest 31 HP:0000774
30 long thorax 31 HP:0100818
31 pulmonary hypoplasia 31 HP:0002089
32 large posterior fontanelle 31 HP:0004491
33 absent gallbladder 31 HP:0011467
34 short ribs 31 HP:0000773
35 lateral clavicle hook 31 HP:0000895
36 laryngeal hypoplasia 31 HP:0008749
37 horizontal ribs 31 HP:0000888
38 absent nasal bridge 31 HP:0005285
39 narrow greater sciatic notch 31 HP:0003375
40 esophageal diverticulum 31 HP:0100628

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Head And Neck Eyes:
microphthalmia

Chest External Features:
long thorax
narrow thorax

Abdomen Biliary Tract:
absent gallbladder

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
overlapping metacarpals
poor mineralization of phalanges

Abdomen Gastrointestinal:
esophageal diverticulum
imperforate anus
rectal diverticulosis

Head And Neck Nose:
flat nasal bridge

Skeletal Pelvis:
hypoplastic pubis
narrow sacroiliac notch
tall ileum
horizontal pubis

Genitourinary Internal Genitalia Female:
double vagina
uterine didelphys

Head And Neck Head:
open fontanel

Cardiovascular Vascular:
flat vascular malformation in area of lower spine

Respiratory Airways:
hypoplastic trachea

Skeletal Limbs:
rhizomelic humeri
smooth ends of humeri
mesomelic radii
smooth contours of radii
mesomelic ulnae
more
Head And Neck Ears:
low-set ears
small ears
malformed ears

Cardiovascular Heart:
tetralogy of fallot
atrioventricular canal

Respiratory Lung:
pulmonary hypoplasia
bilateral unilobed lungs

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs
handlebar clavicles

Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
poor mineralization of phalanges

Chest Breasts:
widely spaced nipples

Head And Neck Teeth:
natal teeth

Respiratory Larynx:
hypoplastic larynx

Prenatal Manifestations Placenta And Umbilical Cord:
two-vessel umbilical cord

Head And Neck Mouth:
cleft lip, midline
cleft palate, midline
lobular tongue (hamartomas)
fused tongue

Skin Nails Hair Skin:
flat vascular malformation in area of lower spine

Skeletal Skull:
poor mineralization of calvarium

Clinical features from OMIM®:

617925 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 20 with Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 20 with Polydactyly 29 INTU

Anatomical Context for Short-Rib Thoracic Dysplasia 20 with Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 20 with Polydactyly:

40
Eye, Pancreas, Tongue, Bone, Uterus, Trachea

Publications for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 20 with Polydactyly:

# Title Authors PMID Year
1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 57 6
27158779 2016
2
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
3
Ciliary disorder of the skeleton. 57
22791528 2012

Variations for Short-Rib Thoracic Dysplasia 20 with Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 20 with Polydactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INTU NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) SNV Likely pathogenic 504482 rs1360128571 GRCh37: 4:128621214-128621214
GRCh38: 4:127700059-127700059
2 INTU NM_015693.4(INTU):c.826C>T (p.Gln276Ter) SNV Likely pathogenic 504483 rs373900644 GRCh37: 4:128584593-128584593
GRCh38: 4:127663438-127663438
3 INTU NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) SNV Likely pathogenic 504481 rs1037828930 GRCh37: 4:128590281-128590281
GRCh38: 4:127669126-127669126

Expression for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 20 with Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 20 with Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Sources for Short-Rib Thoracic Dysplasia 20 with Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....