DLX5 gene related symptoms and diseases

All the information presented here about the DLX5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DLX5 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Split hand Very Common - Between 80% and 100% cases
Severe short stature Uncommon - Between 30% and 50% cases
Hitchhiker thumb Uncommon - Between 30% and 50% cases
Moderate hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DLX5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Split foot
  • Abnormality of the nail
  • Low anterior hairline
  • Tapered finger
  • Synophrys
  • Clinodactyly
  • Finger syndactyly
  • Frontal bossing

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DLX5 gene

Here you will find a list of rare diseases related to the DLX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION


Alternate names

ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION Is also known as shfm, ectrodactyly, split hand foot malformation

Description

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.

Most common symptoms of ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

  • Sensorineural hearing impairment
  • Finger syndactyly
  • Split hand
  • Oligodactyly
  • Aniridia


More info about ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

SOURCES: ORPHANET

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME


Alternate names

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Description

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

Most common symptoms of SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

SOURCES: MESH ORPHANET OMIM


Potential gene panels for DLX5 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

Split-hand/foot malformation 6 (sequence analysis of DLX5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DLX5 gene.

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA

More info about this panel

Split-hand/foot malformation type 1 with sensorineural hearing loss Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DLX5 gene.

More info about this panel

Syndromic Hearing Loss Panel Panel

Germany.

By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

DLX5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DLX5 gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

Limb Malformations Panel Panel

Finland.

By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL

More info about this panel

SPLIT HAND-SPLIT FOOT MALFORMATION Panel

Spain.

By Laboratorio de Genetica Clinica SL SPLIT HAND-SPLIT FOOT MALFORMATION that also includes the following genes: SEM1 WNT10B TP63 DLX5

More info about this panel

SPLIT HAND-SPLIT FOOT-DEAFNESS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the DLX5 gene.

More info about this panel


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