Brachydactyly, and Talipes equinovarus

Diseases related with Brachydactyly and Talipes equinovarus

In the following list you will find some of the most common rare diseases related to Brachydactyly and Talipes equinovarus that can help you solving undiagnosed cases.


Top matches:

Medium match MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2


Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Wide nose
  • Vertebral fusion
  • Tarsal synostosis


SOURCES: OMIM MESH MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

Medium match BRACHYDACTYLY, TYPE A1, C; BDA1C


Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Short distal phalanx of finger
  • Bilateral talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, C; BDA1C

Medium match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME


Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Medium match ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD


ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD Is also known as chondrodysplasia, acromesomelic, with or without genital anomalies

Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Hypogonadism
  • Amenorrhea


SOURCES: OMIM MESH MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD

Medium match TIBIAL APLASIA-ECTRODACTYLY SYNDROME


Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME

Medium match BRACHYDACTYLY TYPE A1


Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

BRACHYDACTYLY TYPE A1 Is also known as farabee-type brachydactyly|brachydactyly, farabee type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE A1

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Medium match BRACHYDACTYLY TYPE C


Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

BRACHYDACTYLY TYPE C Is also known as brachydactyly, haws type

Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Delayed skeletal maturation
  • Clinodactyly of the 5th finger


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE C

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Top 5 symptoms//phenotypes associated to Brachydactyly and Talipes equinovarus

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Bilateral talipes equinovarus Uncommon - Between 30% and 50% cases
Short middle phalanx of finger Uncommon - Between 30% and 50% cases
Carpal synostosis Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Talipes equinovarus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short distal phalanx of finger Fibular hypoplasia

Rare Symptoms - Less than 30% cases


Cone-shaped epiphysis Scoliosis Short hallux Short finger Short foot Mild short stature Hypoplasia of the ulna Abnormality of the fingernails Camptodactyly Aplasia/Hypoplasia of the ulna Short metacarpal Short 1st metacarpal Frontal bossing Growth delay Tarsal synostosis Atrial septal defect Symphalangism affecting the phalanges of the hand Profound global developmental delay Spotty hypopigmentation Anisopoikilocytosis Delayed skeletal maturation Polydactyly Short metatarsal Ulnar deviation of finger Avascular necrosis of the capital femoral epiphysis Short 2nd finger Madelung deformity Sparse and thin eyebrow Talipes equinovalgus Metatarsus valgus Ulnar deviation of the 2nd finger Cone-shaped epiphyses of the middle phalanges of the hand Complete duplication of distal phalanx of the thumb Ulnar deviation of the 3rd finger Triangular shaped middle phalanx of the 2nd finger Hypopigmented skin patches Talipes Hypopigmentation of the skin Anemia Radial deviation of the 4th finger Radial deviation of the 3rd finger Broad metacarpal epiphyses Proportionate shortening of all digits Thin proximal phalanges with broad epiphyses of the hand Global developmental delay Microcephaly Abnormal facial shape Depressed nasal bridge Triangular epiphysis of the proximal phalanx of the 2nd finger Anteverted nares Recurrent infections Severe short stature Proptosis High forehead Osteopenia Telecanthus Sparse hair Small for gestational age Hypersegmentation of proximal phalanx of second finger Hypersegmentation of proximal phalanx of third finger Triangular shaped middle phalanx of the 3rd finger Metaphyseal irregularity Arthralgia Rigidity Arthritis Small hand Hip dysplasia Osteoarthritis Growth abnormality Epiphyseal dysplasia Spondyloepiphyseal dysplasia Clinodactyly Metatarsus adductus Multiple epiphyseal dysplasia Abnormality of the knee Flat capital femoral epiphysis Hip subluxation Knee pain Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Skeletal dysplasia Gait disturbance Flattened metatarsal heads Triangular epiphysis of the middle phalanx of the 2nd finger Triangular shaped proximal phalanx of the 3rd finger Pseudoepiphyses of the 2nd finger Triangular epiphysis of the proximal phalanx of the 3rd finger Enlarged epiphysis of the proximal phalanx of the 3rd finger Pseudoepiphyses of the 3rd finger Short 3rd finger Triangular shaped proximal phalanx of the 2nd finger Enlarged epiphysis of the middle phalanx of the 2nd finger Triangular epiphysis of the middle phalanx of the 3rd finger Flexion contracture Enlarged epiphysis of the proximal phalanx of the 2nd finger Enlarged epiphysis of the middle phalanx of the 3rd finger Aplasia/Hypoplasia of the 1st metacarpal Type C brachydactyly Stippling of the epiphysis of the distal phalanx of the thumb Generalized hypotonia Muscular hypotonia Cleft palate Pain Type A1 brachydactyly Short proximal phalanx of thumb Slender metacarpals Limb undergrowth Abnormality of the carpal bones Joint contracture of the 5th finger Abnormality of the distal phalanx of finger 2-3 finger syndactyly Long metacarpals Radially deviated wrists Hypogonadism Amenorrhea Primary amenorrhea Ridged nail Abnormality of the genital system Short phalanx of finger Short toe Hypergonadotropic hypogonadism Disproportionate short-limb short stature Radial deviation of finger Short middle phalanx of the 5th finger Short femoral neck Hypoplasia of the uterus Abnormality of the humerus Abnormality of the ulna Disproportionate short stature Postaxial oligodactyly Midface retrusion Prominent forehead Toe syndactyly Round face Hemangioma Short 5th finger Lower limb asymmetry Aplasia/Hypoplasia of the fibula Unilateral ulnar hypoplasia Synostosis of carpal bones Macrocephaly Short middle phalanx of the 3rd finger Short middle phalanx of the 4th finger Joint stiffness Elbow flexion contracture Short middle phalanx of the 2nd finger Metaphyseal widening Elbow dislocation Aplasia/Hypoplasia of the radius Finger symphalangism Broad foot Short proximal phalanx of hallux Short palm Popliteal pterygium Aplasia/Hypoplasia of the tibia Hand monodactyly Rudimentary to absent tibiae Absent forearm Aplasia of the 3rd finger Intellectual disability Humeroradial synostosis Short thumb Abnormality of fibula morphology Vertebral fusion Wide nose Broad palm Ankylosis Distal symphalangism of hands Broad metacarpals Absent distal interphalangeal creases Radial deviation of the 2nd finger Malar flattening Absent tibia Patellar aplasia Ulnar deviation of the hand Postaxial hand polydactyly Fibular aplasia Aplasia/Hypoplasia involving the metacarpal bones Aplasia of the proximal phalanges of the hand Widened proximal tibial metaphyses Syndactyly Finger syndactyly Abnormality of the foot Limitation of joint mobility Split hand Abnormality of femur morphology Omphalocele Overfolded helix Cupped ear Preaxial hand polydactyly Femoral bowing Ectrodactyly Split foot Proximal symphalangism Short femur Double-layered patella



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Apraxia, related diseases and genetic alterations Lymphoma and Squamous cell carcinoma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more