MCID: SHR115
MIFTS: 20

Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 57 12 29 6
Short-Rib Thoracic Dysplasia 19 Without Polydactyly 6
Srtd19 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy or early childhood
based on report of 2 unrelated male patients (last curated february 2018)


HPO:

32
short-rib thoracic dysplasia 19 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 19 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 with or without polydactyly, see SRTD1 (208500). (617895)

MalaCards based summary : Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly, is also known as short-rib thoracic dysplasia 19 without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly is IFT81 (Intraflagellar Transport 81). Affiliated tissues include bone, eye and pancreas, and related phenotypes are dolichocephaly and prominent occiput

Related Diseases for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Face:
prominent forehead
long philtrum
midface hypoplasia

Head And Neck Head:
dolichocephaly
prominent occiput
relative macrocephaly

Skeletal Hands:
brachydactyly
postaxial polydactyly (in 1 patient)
syndactyly (in 1 patient)

Respiratory Lung:
pulmonary hypoplasia

Skeletal Limbs:
short long bones
curved long bones
hypoplasia of long bones
rounded metaphyses

Neurologic Central Nervous System:
global hypotonia

Skeletal Pelvis:
small iliac bones (in 1 patient)

Head And Neck Nose:
depressed nasal bridge

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

Skeletal Skull:
dolichocephaly
prominent occiput
relative macrocephaly

Abdomen External Features:
omphalocele

Head And Neck Eyes:
prominent eyes

Cardiovascular Heart:
ventricular septal defect (in 1 patient)

Genitourinary External Genitalia Male:
ambiguous genitalia (in 1 patient)

Skeletal Feet:
postaxial polydactyly (in 1 patient)
syndactyly (in 1 patient)


Clinical features from OMIM:

617895

Human phenotypes related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 dolichocephaly 32 very rare (1%) HP:0000268
2 prominent occiput 32 very rare (1%) HP:0000269
3 long philtrum 32 very rare (1%) HP:0000343
4 low-set ears 32 very rare (1%) HP:0000369
5 short ribs 32 very rare (1%) HP:0000773
6 horizontal ribs 32 HP:0000888
7 hypoplastic ilia 32 HP:0000946
8 generalized hypotonia 32 very rare (1%) HP:0001290
9 ventricular septal defect 32 very rare (1%) HP:0001629
10 pulmonary hypoplasia 32 HP:0002089
11 respiratory distress 32 HP:0002098
12 respiratory failure 32 HP:0002878
13 micromelia 32 very rare (1%) HP:0002983
14 hypoplasia of the radius 32 HP:0002984
15 relative macrocephaly 32 very rare (1%) HP:0004482
16 thoracic hypoplasia 32 HP:0005257
17 midface retrusion 32 very rare (1%) HP:0011800
18 postaxial polydactyly 32 very rare (1%) HP:0100259

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 29 IFT81

Anatomical Context for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Variations for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT81 NM_014055.3(IFT81): c.1534C> T (p.Arg512Ter) single nucleotide variant Pathogenic rs200335504 GRCh38 Chromosome 12, 110192683: 110192683
2 IFT81 NM_014055.3(IFT81): c.1534C> T (p.Arg512Ter) single nucleotide variant Pathogenic rs200335504 GRCh37 Chromosome 12, 110630488: 110630488
3 IFT81 NM_014055.3(IFT81): c.87G> C (p.Leu29Phe) single nucleotide variant Pathogenic rs751222088 GRCh37 Chromosome 12, 110565272: 110565272
4 IFT81 NM_014055.3(IFT81): c.87G> C (p.Leu29Phe) single nucleotide variant Pathogenic rs751222088 GRCh38 Chromosome 12, 110127467: 110127467
5 IFT81 NM_014055.3(IFT81): c.785T> G (p.Leu262Ter) single nucleotide variant Pathogenic rs576969206 GRCh38 Chromosome 12, 110143385: 110143385
6 IFT81 NM_014055.3(IFT81): c.785T> G (p.Leu262Ter) single nucleotide variant Pathogenic rs576969206 GRCh37 Chromosome 12, 110581190: 110581190
7 IFT81 NM_014055.3(IFT81): c.1303_1305delCTT (p.Leu435del) deletion Pathogenic GRCh37 Chromosome 12, 110618341: 110618343
8 IFT81 NM_014055.3(IFT81): c.1303_1305delCTT (p.Leu435del) deletion Pathogenic GRCh38 Chromosome 12, 110180536: 110180538

Expression for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Sources for Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

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74 UMLS via Orphanet
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