SRTD20
MCID: SHR116
MIFTS: 22

Short-Rib Thoracic Dysplasia 20 with Polydactyly (SRTD20)

Categories: 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 75 6
Srtd20 57 75

Characteristics:

OMIM:

57
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:

32
short-rib thoracic dysplasia 20 with polydactyly:
Mortality/Aging 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)

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 bone, brain and kidney, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
small ears
malformed ears

Head And Neck Eyes:
microphthalmia

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

Respiratory Lung:
pulmonary hypoplasia
bilateral unilobed lungs

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

Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
poor mineralization of phalanges

Chest Breasts:
widely spaced nipples

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

Respiratory Larynx:
hypoplastic larynx

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

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 Neck:
short neck

Cardiovascular Heart:
tetralogy of fallot
atrioventricular canal

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:
imperforate anus
esophageal diverticulum
rectal diverticulosis

Head And Neck Nose:
flat nasal bridge

Head And Neck Teeth:
natal teeth

Genitourinary Internal Genitalia Female:
double vagina
uterine didelphys

Head And Neck Head:
open fontanel

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

Skeletal Skull:
poor mineralization of calvarium


Clinical features from OMIM:

617925

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

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 very rare (1%) HP:0000369
3 short neck 32 very rare (1%) HP:0000470
4 frontal bossing 32 HP:0002007
5 microtia 32 HP:0008551
6 brachycephaly 32 HP:0000248
7 cleft palate 32 HP:0000175
8 micrognathia 32 very rare (1%) HP:0000347
9 narrow chest 32 HP:0000774
10 low posterior hairline 32 HP:0002162
11 microphthalmia 32 HP:0000568
12 anal atresia 32 very rare (1%) HP:0002023
13 tetralogy of fallot 32 very rare (1%) HP:0001636
14 narrow sacroiliac notch 32 HP:0008803
15 long thorax 32 HP:0100818
16 wide anterior fontanel 32 very rare (1%) HP:0000260
17 micropenis 32 very rare (1%) HP:0000054
18 pulmonary hypoplasia 32 HP:0002089
19 decreased calvarial ossification 32 very rare (1%) HP:0005474
20 hypoplastic pubic bone 32 very rare (1%) HP:0003173
21 absent nasal bridge 32 HP:0005285
22 fibular hypoplasia 32 very rare (1%) HP:0003038
23 short tibia 32 very rare (1%) HP:0005736
24 uterus didelphys 32 very rare (1%) HP:0003762
25 septate vagina 32 very rare (1%) HP:0001153
26 hamartoma of tongue 32 very rare (1%) HP:0011802
27 laryngeal hypoplasia 32 HP:0008749
28 natal tooth 32 very rare (1%) HP:0000695
29 short ribs 32 HP:0000773
30 lateral clavicle hook 32 HP:0000895
31 preaxial polydactyly 32 very rare (1%) HP:0100258
32 cleft lip 32 very rare (1%) HP:0410030
33 postaxial polydactyly 32 very rare (1%) HP:0100259
34 large posterior fontanelle 32 HP:0004491
35 horizontal ribs 32 HP:0000888
36 esophageal diverticulum 32 HP:0100628
37 complete atrioventricular canal defect 32 very rare (1%) HP:0001674

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

Anatomical Context for Short-Rib Thoracic Dysplasia 20 with Polydactyly

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

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

Publications for Short-Rib Thoracic Dysplasia 20 with Polydactyly

Variations for Short-Rib Thoracic Dysplasia 20 with Polydactyly

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INTU NM_015693.3(INTU): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs1037828930 GRCh38 Chromosome 4, 127669126: 127669126
2 INTU NM_015693.3(INTU): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs1037828930 GRCh37 Chromosome 4, 128590281: 128590281
3 INTU NM_015693.3(INTU): c.1499A> C (p.Glu500Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 127700059: 127700059
4 INTU NM_015693.3(INTU): c.1499A> C (p.Glu500Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 128621214: 128621214

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

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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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