Brachydactyly, and Camptodactyly

Diseases related with Brachydactyly and Camptodactyly

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


Top matches:

Low match SYNDACTYLY TYPE 5


Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

Low match BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE


Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly
  • Toe syndactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

Low 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

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Other less relevant matches:

Low match PROXIMAL SYMPHALANGISM


Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

Low match SYNPOLYDACTYLY TYPE 1


Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Polydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 1

Low match REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA


Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

Low 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

Low match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME


Related symptoms:

  • Pes cavus
  • Thin upper lip vermilion
  • Camptodactyly of finger
  • Single transverse palmar crease
  • Tall stature


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Low match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME


Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Camptodactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Camptodactyly of finger Uncommon - Between 30% and 50% cases
Abnormality of the foot Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short distal phalanx of finger Carpal synostosis Clinodactyly Finger clinodactyly

Rare Symptoms - Less than 30% cases


Flexion contracture Abnormality of the skeletal system Split hand Synostosis of carpal bones Elbow dislocation Midface retrusion Talipes equinovarus Macrocephaly Postaxial polydactyly Short middle phalanx of the 5th finger Aplasia of the middle phalanx of the hand Skeletal dysplasia Polydactyly Short phalanx of finger Ectrodactyly Toe syndactyly 3-4 finger syndactyly Split foot 4-5 toe syndactyly Dry skin Oral cleft Hypodontia Ectodermal dysplasia Nail dysplasia Wide intermamillary distance Aplasia of the 3rd finger Pes cavus Microdontia Eczema Absent forearm Fine hair Cutaneous photosensitivity Sparse scalp hair Inflammatory abnormality of the skin Thin skin Rudimentary to absent tibiae Anal atresia Nail dystrophy Thin upper lip vermilion Abnormal vertebral morphology Thoracolumbar scoliosis Flat acetabular roof Short 1st metacarpal Short lower limbs Bilateral single transverse palmar creases Distal symphalangism of hands Type A1 brachydactyly Wide nasal bridge Hypotrichosis Tall stature Abnormality of the dentition Single transverse palmar crease Alopecia Hyperhidrosis Prominent nasal bridge Broad foot Chess-pawn distal phalanges Abnormality of dental morphology Abnormality of the face Short toe Ptosis Low-set ears Epicanthus Malar flattening Osteoporosis Telecanthus Coloboma Abnormality of skin pigmentation Iris coloboma Multiple joint contractures Hypertelorism Anal stenosis Fibroma Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Cleft palate Adermatoglyphia Skin ulcer Fair hair Abnormality of the nail Conjunctivitis Oligodontia Dermal atrophy Melanocytic nevus Aplasia/Hypoplasia of the tibia Freckling Hypoplastic nipples Alopecia of scalp Generalized hypopigmentation Premature loss of permanent teeth Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Hand monodactyly Overfolded helix Popliteal pterygium Joint contracture of the 5th finger Elbow flexion contracture Abnormality of the fingernails Metaphyseal widening Aplasia/Hypoplasia of the radius Abnormality of the ulna Ridged nail Abnormality of the humerus Abnormality of the carpal bones Abnormality of the distal phalanx of finger Short fifth metatarsal 2-3 finger syndactyly Long metacarpals Radially deviated wrists Strabismus Sensorineural hearing impairment Pes planus Abnormality of the metacarpal bones Tarsal synostosis Abnormality of the wrist Joint stiffness Short middle phalanx of the 2nd finger Proximal symphalangism Metatarsal synostosis Interphalangeal joint contracture of finger Joint contracture of the hand 2-3 toe syndactyly Cutaneous finger syndactyly Ulnar deviation of finger Metacarpal synostosis Absent distal interphalangeal creases 3-4 toe syndactyly Fused fourth and fifth metacarpals Short proximal phalanx of finger Enlarged proximal interphalangeal joints Deviation of toes Cutaneous syndactyly Short middle phalanx of finger Hallux valgus Oligodactyly Symphalangism affecting the phalanges of the hand Short 5th metacarpal Cutaneous syndactyly of toes Elbow ankylosis Abnormal finger flexion creases Absent tibia Omphalocele Mild short stature Limited elbow extension Ovoid vertebral bodies Spondylometaphyseal dysplasia Thoracolumbar kyphosis Hyposegmentation of neutrophil nuclei Limitation of joint mobility Postaxial hand polydactyly Cupped ear Rhizomelia Preaxial hand polydactyly Femoral bowing Fibular hypoplasia Short hallux Short femur Abnormality of femur morphology Patellar aplasia Abnormality of fibula morphology Aplasia/Hypoplasia of the ulna Knee flexion contracture Platyspondyly Proximal/middle symphalangism of 5th finger Mesoaxial hand polydactyly Metacarpophalangeal synostosis Short palm Short foot Abnormality of the hand Broad hallux Postaxial foot polydactyly Preaxial foot polydactyly Hallux varus Contracture of the proximal interphalangeal joint of the 5th finger Hyperlordosis Y-shaped metacarpals 6 metacarpals 2nd-5th toe middle phalangeal hypoplasia Global developmental delay Short stature Microcephaly Ventricular septal defect Kyphosis Prominent forehead Localized osteoporosis



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