LMBR1 gene related symptoms and diseases

All the information presented here about the LMBR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LMBR1 gene

Symptoms // Phenotype % Cases
Triphalangeal thumb Common - Between 50% and 80% cases
Short tibia Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LMBR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Preaxial hand polydactyly
  • Aplasia/Hypoplasia of the thumb
  • Cutaneous syndactyly
  • Preaxial polydactyly
  • Limitation of joint mobility
  • Rarely - Less than 30% cases

  • Cryptorchidism
  • Preaxial foot polydactyly
  • Talipes equinovarus

And 85 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LMBR1 gene

Here you will find a list of rare diseases related to the LMBR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACHEIROPODIA


Alternate names

ACHEIROPODIA Is also known as acheiropody, acheiropody, brazilian type, acheiropodia

Description

Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.

Most common symptoms of ACHEIROPODIA

  • Abnormality of the metaphysis
  • Abnormality of epiphysis morphology
  • Short humerus
  • Absent radius
  • Short tibia


More info about ACHEIROPODIA

SOURCES: OMIM MESH ORPHANET

LAURIN-SANDROW SYNDROME


Alternate names

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome, tmip, mirror-image polydactyly, fibula and ulna, duplication of, with absence of tibia and radius, mip, mirror hands and feet with nasal defects, sandrow syndrome, tetramelic mirror-image polydactyly

Description

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

Most common symptoms of LAURIN-SANDROW SYNDROME

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


More info about LAURIN-SANDROW SYNDROME

SOURCES: OMIM MESH ORPHANET

POLYDACTYLY OF A TRIPHALANGEAL THUMB


Alternate names

POLYDACTYLY OF A TRIPHALANGEAL THUMB Is also known as preaxial polydactyly type 2, ppd2

Description

Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).


More info about POLYDACTYLY OF A TRIPHALANGEAL THUMB

SOURCES: ORPHANET

POLYDACTYLY, PREAXIAL II; PPD2


Alternate names

POLYDACTYLY, PREAXIAL II; PPD2 Is also known as triphalangeal thumb-polydactyly syndrome, polydactyly of triphalangeal thumb

Most common symptoms of POLYDACTYLY, PREAXIAL II; PPD2

  • Syndactyly
  • Polydactyly
  • Postaxial polydactyly
  • Postaxial hand polydactyly
  • Cutaneous syndactyly


More info about POLYDACTYLY, PREAXIAL II; PPD2

SOURCES: OMIM

SYNDACTYLY TYPE 4


Alternate names

SYNDACTYLY TYPE 4 Is also known as sd4, haas type syndactyly, polysyndactyly, haas type

Description

Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

Most common symptoms of SYNDACTYLY TYPE 4

  • Syndactyly
  • Polydactyly
  • Camptodactyly of finger
  • Toe syndactyly
  • Postaxial polydactyly


More info about SYNDACTYLY TYPE 4

SOURCES: ORPHANET MESH OMIM

TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME


Alternate names

TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME Is also known as absent tibia-polydactyly syndrome, tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia

Description

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.

Most common symptoms of TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME

  • Short stature
  • Cryptorchidism
  • Talipes equinovarus
  • Syndactyly
  • Abnormal heart morphology


More info about TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME

SOURCES: OMIM ORPHANET MESH

RADIAL HEMIMELIA


Alternate names

RADIAL HEMIMELIA Is also known as radial clubhand, radial longitidinal meromelia, congenital longitudinal deficiency of the radius, radial ray agenesis

Description

Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.


More info about RADIAL HEMIMELIA

SOURCES: ORPHANET

TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME


Alternate names

TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME Is also known as tpt-ps syndrome

Description

Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.


More info about TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME

SOURCES: ORPHANET

HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME


Alternate names

HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME Is also known as werner mesomelic syndrome

Description

Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.

Most common symptoms of HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME

  • Short stature
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Finger syndactyly
  • Limitation of joint mobility


More info about HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME

SOURCES: ORPHANET


Potential gene panels for LMBR1 gene

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

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

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

Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel

Germany.

By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1

More info about this panel

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

LMBR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LMBR1 gene.

More info about this panel

SYNDACTYLY TYPE 4 Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDACTYLY TYPE 4 that also includes the following genes: SHH LMBR1

More info about this panel

TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LMBR1 gene.

More info about this panel

Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: WNT10B WNT3 LMBR1 TP63

More info about this panel


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