SRTD18
MCID: SHR113
MIFTS: 24

Short-Rib Thoracic Dysplasia 18 with Polydactyly (SRTD18)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 18 with Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 18 with Polydactyly:

Name: Short-Rib Thoracic Dysplasia 18 with Polydactyly 57 12 72 29 6
Srtd18 57 72
Dysplasia, Short-Rib Thoracic, Type 18 with Polydactyly 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 3 patients (last curated january 2018)


HPO:

31
short-rib thoracic dysplasia 18 with polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 18 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). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500). (617866) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 18 with Polydactyly, is also known as srtd18. An important gene associated with Short-Rib Thoracic Dysplasia 18 with Polydactyly is IFT43 (Intraflagellar Transport 43). Affiliated tissues include pancreas, eye and cortex, and related phenotypes are hydrocephalus and hypertelorism

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the IFT43 gene on chromosome 14q24.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 18 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 18 with Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 18 with Polydactyly:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 hypertelorism 31 HP:0000316
3 micrognathia 31 HP:0000347
4 epicanthus 31 HP:0000286
5 cystic hygroma 31 HP:0000476
6 dolichocephaly 31 HP:0000268
7 brachydactyly 31 HP:0001156
8 thin upper lip vermilion 31 HP:0000219
9 platyspondyly 31 HP:0000926
10 ventriculomegaly 31 HP:0002119
11 polycystic kidney dysplasia 31 HP:0000113
12 micromelia 31 HP:0002983
13 vertebral wedging 31 HP:0008422
14 hypoplastic ischia 31 HP:0003175
15 thoracic hypoplasia 31 HP:0005257
16 short ribs 31 HP:0000773
17 syndactyly 31 HP:0001159
18 preaxial polydactyly 31 HP:0100258
19 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
epicanthal folds, bilateral

Head And Neck Neck:
cystic hygroma

Skeletal Hands:
brachydactyly
preaxial polydactyly
postaxial polydactyly
bilateral simian creases
lack of ossification of hands

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
irregularly bent ribs
reduced number of ribs

Head And Neck Mouth:
thin upper lip
upper lip attached to maxilla by mucosal fold

Chest External Features:
small thorax

Skeletal Spine:
platyspondyly, mild
vertebral wedging, with round anterior ends

Abdomen Pancreas:
stellate fibrosis in tail of pancreas

Skeletal Skull:
poorly calcified skull

Head And Neck Face:
micrognathia

Head And Neck Head:
dolichocephaly

Skeletal Limbs:
micromelia
hypoplastic fibulae
reverse campomelia of humeri
curved long bones
angulated femur
more
Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
bilateral partial syndactyly of second and third toes
lack of ossification of feet

Genitourinary Kidneys:
fibrosis
polycystic kidneys
thin cortex
abnormal kidneys
poorly formed nephrogenic zone
more
Skeletal Pelvis:
hypoplastic ischium
narrow sciatic notch
abnormal ilia
decreased height of ilia

Abdomen Liver:
ductal abnormalities of liver

Abdomen Gastrointestinal:
malrotation of intestine

Neurologic Central Nervous System:
hydrocephalus, mild
dilated ventricles, mildly
abnormal folding of left hippocampus
neuroglial heterotopias in temporal horn roof

Clinical features from OMIM®:

617866 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 18 with Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 18 with Polydactyly 29 IFT43

Anatomical Context for Short-Rib Thoracic Dysplasia 18 with Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 18 with Polydactyly:

40
Pancreas, Eye, Cortex, Kidney, Liver

Publications for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 18 with Polydactyly:

# Title Authors PMID Year
1
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 57 6
28400947 2017
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 18 with Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 18 with Polydactyly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT43 NM_052873.3(IFT43):c.2T>A (p.Met1Lys) SNV Pathogenic 488649 rs769724508 GRCh37: 14:76452131-76452131
GRCh38: 14:75985788-75985788
2 IFT43 NM_001102564.3(IFT43):c.25G>T (p.Glu9Ter) SNV Pathogenic 968952 GRCh37: 14:76452154-76452154
GRCh38: 14:75985811-75985811
3 IFT43 NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) SNV Likely pathogenic 488650 rs1555369050 GRCh37: 14:76549813-76549813
GRCh38: 14:76083470-76083470

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 18 with Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 IFT43 p.Trp174Arg VAR_080630 rs155536905

Expression for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 18 with Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 18 with Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Sources for Short-Rib Thoracic Dysplasia 18 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
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