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  2. Rare Disease Genes
  3. RSPO2

RSPO2 gene related symptoms and diseases

All the information presented here about the RSPO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RSPO2 gene

Symptoms // Phenotype % Cases
Micrognathia Common - Between 50% and 80% cases
Oral cleft Common - Between 50% and 80% cases
Tetraamelia Common - Between 50% and 80% cases
Septo-optic dysplasia Uncommon - Between 30% and 50% cases
Aplasia/Hypoplasia involving the nose Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RSPO2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Aplasia/Hypoplasia involving the pelvis
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Pulmonary hypoplasia
  • Microretrognathia
  • Aplasia/Hypoplasia of the nipples
  • Bilateral cleft lip

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RSPO2 gene

Here you will find a list of rare diseases related to the RSPO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Alternate names

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Description

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

Most common symptoms of TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

SOURCES: ORPHANET

TETRAAMELIA SYNDROME 2; TETAMS2

Alternate names

TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis

Description

Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

Most common symptoms of TETRAAMELIA SYNDROME 2; TETAMS2

  • Micrognathia
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Oral cleft


More info about TETRAAMELIA SYNDROME 2; TETAMS2

SOURCES: OMIM

HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD

Alternate names

HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD Is also known as hfhrtrd

Description

Humerofemoral hypoplasia with radiotibial ray deficiency is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).

Most common symptoms of HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD

  • Flexion contracture
  • Talipes equinovarus
  • Hernia
  • Congenital diaphragmatic hernia
  • Pterygium


More info about HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD

SOURCES: OMIM


Potential gene panels for RSPO2 gene

RSPO2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RSPO2 gene.

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

PrimBio Colorectal Cancer Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2

More info about this panel
United States.

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