LMBR1 gene related symptoms and diseases

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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM MESH ORPHANET

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).

SOURCES: ORPHANET

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

SOURCES: OMIM

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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: OMIM ORPHANET MESH

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.

SOURCES: ORPHANET

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.

SOURCES: ORPHANET

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

SOURCES: ORPHANET