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.
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
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 ).
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
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
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
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
Search interest in ALX4
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Spain.
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 United States.
ALX4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALX4 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Frontonasal dysplasia type 2 Panel
Spain.
By Bioarray
This panel specifically test the ALX4 gene.
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
PARIETAL FORAMINA TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ALX4 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
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