ALX4 gene related symptoms and diseases

All the information presented here about the ALX4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALX4 gene

Symptoms // Phenotype % Cases
Brachycephaly Common - Between 50% and 80% cases
Parietal foramina Common - Between 50% and 80% cases
Encephalocele Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Upslanted palpebral fissure Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ALX4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Calvarial skull defect
  • Cryptorchidism
  • Depressed nasal bridge
  • Broad nasal tip
  • Telecanthus
  • Alopecia
  • Bifid nose
  • Intellectual disability

And 185 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALX4 gene

Here you will find a list of rare diseases related to the ALX4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Alternate names

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag, frontonasal dysplasia type 2, frontonasal dysplasia with alopecia and genital abnomality, craniofrontonasal dysplasia with alopecia and hypogonadism

Description

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

Most common symptoms of FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

SOURCES: ORPHANET

ACROMELIC FRONTONASAL DYSPLASIA


Alternate names

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome, acromelic frontonasal dysostosis, afnd

Description

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

Most common symptoms of ACROMELIC FRONTONASAL DYSPLASIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


More info about ACROMELIC FRONTONASAL DYSPLASIA

SOURCES: ORPHANET OMIM

FRONTONASAL DYSPLASIA 1; FND1


Alternate names

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation, fnm, frontonasal dysplasia, median facial cleft syndrome, frontorhiny, fnd

Description

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

Most common symptoms of FRONTONASAL DYSPLASIA 1; FND1

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


More info about FRONTONASAL DYSPLASIA 1; FND1

SOURCES: OMIM

POTOCKI-SHAFFER SYNDROME


Alternate names

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome, defect11 syndrome, pss, chromosome 11p11.2 deletion syndrome, 11p11.2 deletion, p11pds

Description

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

Most common symptoms of POTOCKI-SHAFFER SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


More info about POTOCKI-SHAFFER SYNDROME

SOURCES: MESH OMIM ORPHANET

PARIETAL FORAMINA 2; PFM2


Description

Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Most common symptoms of PARIETAL FORAMINA 2; PFM2

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


More info about PARIETAL FORAMINA 2; PFM2

SOURCES: MESH OMIM

ENLARGED PARIETAL FORAMINA


Alternate names

ENLARGED PARIETAL FORAMINA Is also known as fpp, cranium bifidum occultum, fenestrae parietales symmetricae, hereditary cranium bifidum, catlin marks, pfm, parietal foramina, symmetric, cranium bifidum, hereditary, symmetric parietal foramina, foramina parietalia permagna

Description

Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

Most common symptoms of ENLARGED PARIETAL FORAMINA

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


More info about ENLARGED PARIETAL FORAMINA

SOURCES: OMIM ORPHANET

CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5


Description

Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by Yagnik et al., 2012).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Most common symptoms of CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5

  • Global developmental delay
  • Craniosynostosis
  • Increased intracranial pressure
  • Abnormality of the head


More info about CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5

SOURCES: OMIM

ISOLATED SCAPHOCEPHALY


Alternate names

ISOLATED SCAPHOCEPHALY Is also known as isolated dolichocephaly, non-syndromic sagittal synostosis

Description

Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.

Most common symptoms of ISOLATED SCAPHOCEPHALY

  • Frontal bossing
  • Dolichocephaly
  • Increased intracranial pressure
  • Prominent occiput


More info about ISOLATED SCAPHOCEPHALY

SOURCES: ORPHANET


Potential gene panels for ALX4 gene

Frontonasal Dysplasia 2 - ALX4 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the ALX4 gene.

More info about this panel

Frontonasal Dysplasia 2 - ALX4 Del/Dup Analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the ALX4 gene.

More info about this panel

Craniosynostosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43

More info about this panel

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Facial Dysostosis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2

More info about this panel

ALX4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALX4 gene.

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Parietal foramina 2 (sequence analysis of ALX4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALX4 gene.

More info about this panel

Frontonasal dysplasia 2 (sequence analysis of ALX4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALX4 gene.

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel

Portugal.

By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4

More info about this panel

Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4

More info about this panel

Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Parietal Foramina type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALX4 gene.

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

ALX4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALX4 gene.

More info about this panel

Facial Dysostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D

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

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Frontonasal dysplasia type 2 Panel

Spain.

By Bioarray

This panel specifically test the ALX4 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

FRONTONASAL DYSPLASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FRONTONASAL DYSPLASIA that also includes the following genes: ALX1 ALX3 ALX4

More info about this panel

PARIETAL FORAMINA TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ALX4 gene.

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

Frontonasal Dysplasia Type 2, Sequencing ALX4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALX4 gene.

More info about this panel

Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes Panel

Spain.

By Reference Laboratory Genetics Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes that also includes the following genes: RUNX2 ALX4 MSX2

More info about this panel

Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: ALX1 EFNB1 ALX3 ALX4

More info about this panel

Enlarged Parietal Foramina: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Enlarged Parietal Foramina: gene sequencing panel that also includes the following genes: ALX4 MSX2

More info about this panel


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