MCID: SHR113
MIFTS: 17

Short-Rib Thoracic Dysplasia 18 with Polydactyly

Categories: 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 75 6
Srtd18 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617866
Disease Ontology 12 DOID:0080293
MedGen 42 CN795020
MeSH 44 D012779

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)

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 kidney, pancreas and bone.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds, bilateral

Skeletal Limbs:
micromelia
hypoplastic fibulae
reverse campomelia of humeri
curved long bones
angulated femur
more
Head And Neck Neck:
cystic hygroma

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

Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
bilateral partial syndactyly of second and third toes
lack of ossification of feet

Genitourinary Kidneys:
polycystic kidneys
fibrosis
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

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

Anatomical Context for Short-Rib Thoracic Dysplasia 18 with Polydactyly

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

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

Publications for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Variations for Short-Rib Thoracic Dysplasia 18 with Polydactyly

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT43 NM_052873.2(IFT43): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs769724508 GRCh37 Chromosome 14, 76452131: 76452131
2 IFT43 NM_052873.2(IFT43): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs769724508 GRCh38 Chromosome 14, 75985788: 75985788
3 IFT43 NM_052873.2(IFT43): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 76549813: 76549813
4 IFT43 NM_052873.2(IFT43): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 76083470: 76083470

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

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74 UMLS via Orphanet
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