MCID: SHR116
MIFTS: 15

Short-Rib Thoracic Dysplasia 20 with Polydactyly

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 6
Short-Rib Throacic Dysplasia 20 with Polydactyly 57
Srtd20 57

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


Classifications:



External Ids:

OMIM 57 617925

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 short-rib throacic dysplasia 20 with polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 20 with Polydactyly is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include liver, pancreas and eye.

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

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

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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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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