TWIST2 gene related symptoms and diseases

All the information presented here about the TWIST2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TWIST2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Bulbous nose Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases
Redundant skin Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with TWIST2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Absent eyelashes
  • Micrognathia
  • Depressed nasal bridge
  • Ectodermal dysplasia
  • Not very common - Between 30% and 50% cases

  • Upslanted palpebral fissure
  • Dermal atrophy
  • Depressed nasal ridge
  • Abnormality of the genital system

And 145 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TWIST2 gene

Here you will find a list of rare diseases related to the TWIST2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BARBER-SAY SYNDROME


Alternate names

BARBER-SAY SYNDROME Is also known as bss, hypertrichosis-atrophic skin-ectropion-macrostomia syndrome, hypertrichosis, atrophic skin, ectropion, and macrostomia

Description

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

Most common symptoms of BARBER-SAY SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


More info about BARBER-SAY SYNDROME

SOURCES: ORPHANET OMIM MESH

ABLEPHARON MACROSTOMIA SYNDROME


Description

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Most common symptoms of ABLEPHARON MACROSTOMIA SYNDROME

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


More info about ABLEPHARON MACROSTOMIA SYNDROME

SOURCES: ORPHANET OMIM MESH

FOCAL FACIAL DERMAL DYSPLASIA TYPE III


Alternate names

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type, setleis syndrome, ffdd type iii, ffdd3, brauer-setleis syndrome

Description

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

Most common symptoms of FOCAL FACIAL DERMAL DYSPLASIA TYPE III

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

SOURCES: OMIM ORPHANET

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


Alternate names

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly, bitemporal forceps marks syndrome, facial ectodermal dysplasia, setleis syndrome

Description

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

Most common symptoms of FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

SOURCES: OMIM


Potential gene panels for TWIST2 gene

TWIST2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TWIST2 gene.

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

Barber-Say syndrome Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST2 gene.

More info about this panel

Ablepharon-macrostomia syndrome Comprehensivetest Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST2 gene.

More info about this panel

Barber-Say syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST2 gene.

More info about this panel

Ablepharon-macrostomia syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST2 gene.

More info about this panel

Barber-Say syndrome Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST2 gene.

More info about this panel

Ablepharon-macrostomia syndrome Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST2 gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Focal facial dermal dysplasia 3: TWIST2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TWIST2 gene.

More info about this panel

TWIST2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TWIST2 gene.

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Focal facial dermal dysplasia 3, Setleis type Panel

Spain.

By Bioarray

This panel specifically test the TWIST2 gene.

More info about this panel

Ablepharon-Macrostomia Syndrome , Sequencing TWIST2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TWIST2 gene.

More info about this panel

Focal Dermal Facial Dysplasia Type 3 (Setleis Syndrome) , Sequencing TWIST2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TWIST2 gene.

More info about this panel

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


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