MCID: SHR101
MIFTS: 20

Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Categories: Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 57 75 29 6
Srtd16 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on reports of one indian girl and two fetuses (last curated august 2016)


HPO:

32
short-rib thoracic dysplasia 16 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 16 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). (617102)

MalaCards based summary : Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly, is also known as srtd16. An important gene associated with Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly is IFT52 (Intraflagellar Transport 52). Affiliated tissues include bone, liver and pancreas, and related phenotypes are dolichocephaly and full cheeks

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 16 with or without 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 16 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Teeth:
carious teeth
small widely spaced teeth

Head And Neck Face:
full cheeks
midface hypoplasia
tall forehead

Head And Neck Head:
dolichocephaly

Head And Neck Eyes:
telecanthus
hypermetropia
progressively decreasing peripheral vision
salt-and-pepper fundus

Skeletal Feet:
brachydactyly
sandal gap
short phalanges
short metatarsals

Neurologic Central Nervous System:
motor delay
hypoplastic corpus callosum

Skeletal Limbs:
short limbs
reverse campomelia of humeri
mildly bent femurs
short disorganized hypertrophic zone of cartilage growth plate
irregular margin at transition between cartilage and bone

Head And Neck Mouth:
thick everted vermillion of upper and lower lips

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Growth Height:
short stature

Respiratory Lung:
respiratory distress

Chest External Features:
short thorax
narrow thorax

Skeletal Hands:
brachydactyly
short metacarpals
hypoplastic distal phalanges
cone-shaped epiphyses of phalanges
postaxial polydactyly (in some patients)
more
Skeletal Pelvis:
flat acetabular roof

Abdomen External Features:
protuberant abdomen

Chest Ribs Sternum Clavicles And Scapulae:
shortened ribs
sharp angulations of some lower thoracic ribs

Skeletal Skull:
undermineralized skull (prenatal)


Clinical features from OMIM:

617102

Human phenotypes related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 dolichocephaly 32 HP:0000268
2 full cheeks 32 HP:0000293
3 high forehead 32 HP:0000348
4 low-set ears 32 HP:0000369
5 wide nasal bridge 32 HP:0000431
6 telecanthus 32 HP:0000506
7 hypermetropia 32 HP:0000540
8 carious teeth 32 HP:0000670
9 brachydactyly 32 HP:0001156
10 motor delay 32 HP:0001270
11 sandal gap 32 HP:0001852
12 hypoplasia of the corpus callosum 32 HP:0002079
13 respiratory distress 32 HP:0002098
14 flat acetabular roof 32 HP:0003180
15 short stature 32 HP:0004322
16 depressed nasal bridge 32 HP:0005280
17 limb undergrowth 32 HP:0009826
18 short distal phalanx of finger 32 HP:0009882
19 short metacarpal 32 HP:0010049
20 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
21 short metatarsal 32 HP:0010743
22 midface retrusion 32 HP:0011800
23 postaxial polydactyly 32 occasional (7.5%) HP:0100259

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 29 IFT52

Anatomical Context for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Variations for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 IFT52 p.Ala199Thr VAR_077805 rs886037869

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT52 NM_016004.4(IFT52): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic rs748090019 GRCh38 Chromosome 20, 43605012: 43605012
2 IFT52 NM_016004.4(IFT52): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic rs748090019 GRCh37 Chromosome 20, 42233652: 42233652
3 IFT52 NM_016004.4(IFT52): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs886037869 GRCh37 Chromosome 20, 42242599: 42242599
4 IFT52 NM_016004.4(IFT52): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs886037869 GRCh38 Chromosome 20, 43613959: 43613959
5 IFT52 NM_016004.4(IFT52): c.878delT (p.Leu293Argfs) deletion Pathogenic rs886037870 GRCh38 Chromosome 20, 43624000: 43624000
6 IFT52 NM_016004.4(IFT52): c.878delT (p.Leu293Argfs) deletion Pathogenic rs886037870 GRCh37 Chromosome 20, 42252640: 42252640

Expression for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

Sources for Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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