SPECC1L gene related symptoms and diseases

All the information presented here about the SPECC1L 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.

Top 5 symptoms and clinical features associated to SPECC1L gene

Symptoms // Phenotype % Cases
Thin upper lip vermilion Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SPECC1L gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Craniosynostosis
  • Coloboma
  • Patent ductus arteriosus
  • Hypospadias
  • Hernia
  • Prominent nasal bridge
  • Atrial septal defect
  • Umbilical hernia

And 158 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SPECC1L gene

Here you will find a list of rare diseases related to the SPECC1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT OPITZ G/BBB SYNDROME


Alternate names

AUTOSOMAL DOMINANT OPITZ G/BBB SYNDROME Is also known as autosomal dominant opitz syndrome, autosomal dominant opitz bbb/g syndrome, ados


More info about AUTOSOMAL DOMINANT OPITZ G/BBB SYNDROME

SOURCES: ORPHANET

OPITZ GBBB SYNDROME, TYPE II; GBBB2


Alternate names

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome, gbbb syndrome, hypospadias-dysphagia syndrome, hypertelorism-hypospadias syndrome, opitz-g syndrome, type ii, telecanthus-hypospadias syndrome, g syndrome, opitz oculogenitolaryngeal syndrome, type ii, ogs2, opitz-frias syndrome, opitz gbbb syn

Description

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

Most common symptoms of OPITZ GBBB SYNDROME, TYPE II; GBBB2

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

SOURCES: OMIM

HYPERTELORISM, TEEBI TYPE


Alternate names

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia, craniofrontonasal dysplasia, teebi type, teebi syndrome, teebi hypertelorism syndrome

Description

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

Most common symptoms of HYPERTELORISM, TEEBI TYPE

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


More info about HYPERTELORISM, TEEBI TYPE

SOURCES: OMIM ORPHANET

TESSIER NUMBER 4 FACIAL CLEFT


Alternate names

TESSIER NUMBER 4 FACIAL CLEFT Is also known as oculomaxillofacial dysplasia with oblique facial clefts

Description

Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988).

Most common symptoms of TESSIER NUMBER 4 FACIAL CLEFT

  • Cleft palate
  • Abnormality of the skeletal system
  • Coloboma
  • Abnormality of the foot
  • Cleft upper lip


More info about TESSIER NUMBER 4 FACIAL CLEFT

SOURCES: OMIM ORPHANET

TESSIER NUMBER 7 FACIAL CLEFT


Alternate names

TESSIER NUMBER 7 FACIAL CLEFT Is also known as commissural cleft, isolated, commissural facial cleft, lateral cleft, isolated, transverse cleft, isolated, transverse facial cleft, macrostomia

Description

Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most often associated with other anomalies. Unilateral macrostomia is more common than bilateral (summary by Hawkins et al., 1973).

Most common symptoms of TESSIER NUMBER 7 FACIAL CLEFT

  • Wide mouth
  • Preauricular skin tag
  • Abnormality of the outer ear
  • Facial cleft
  • Skin tags


More info about TESSIER NUMBER 7 FACIAL CLEFT

SOURCES: ORPHANET MESH OMIM


Potential gene panels for SPECC1L gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

Craniosynostosis Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

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

Craniosynostosis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniosynostosis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

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

Opitz G/BBB syndrome (sequence analysis of SPECC1L gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SPECC1L gene.

More info about this panel

Opitz G/BBB syndrome (sequence analysis of SPECC1L gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SPECC1L gene.

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

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

Opitz G/BBB Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Opitz G/BBB Syndrome Sequencing Panel with CNV Detection that also includes the following genes: MED12 ZEB2 CASK SPECC1L EFNB1 FLNA MID1

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

SPECC1L Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SPECC1L gene.

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

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

SPECC1L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SPECC1L gene.

More info about this panel

Opitz G/BBB Syndrome Type 2 , Sequencing SPECC1L Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SPECC1L gene.

More info about this panel


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