Pain, and Limb undergrowth

Diseases related with Pain and Limb undergrowth

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


Top matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA TARDA


Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Abnormality of the skeletal system
  • Short neck


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

Low match METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE


METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE Is also known as metaphyseal chondrodysplasia, spahr type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Motor delay
  • Gait disturbance


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE

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Other less relevant matches:

Low match PSEUDOACHONDROPLASIA


Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

PSEUDOACHONDROPLASIA Is also known as pseudoachondroplastic dysplasia|pseudoachondroplastic spondyloepiphyseal dysplasia

Related symptoms:

  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Delayed skeletal maturation
  • Arthralgia


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOACHONDROPLASIA

Low match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Low match LERI-WEILL DYSCHONDROSTEOSIS; LWD


Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

Low match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Low match STEEL SYNDROME


Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b|charcot-marie-tooth neuropathy, type 1b|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b|hereditary motor and sensory neuropathy ib|hereditary motor and sensory neuropathy i|hmsn i|peroneal muscular atrop

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Top 5 symptoms//phenotypes associated to Pain and Limb undergrowth

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Genu valgum Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hyperlordosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Limb undergrowth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Osteoarthritis Genu varum Micromelia Gait disturbance Hypoplasia of the odontoid process Abnormality of epiphysis morphology Hip dysplasia Platyspondyly Severe short stature Short metacarpal Short palm Rhizomelia Limitation of joint mobility Lumbar hyperlordosis Mild short stature Waddling gait Kyphosis Pes planus Abnormality of the skeletal system Kyphoscoliosis Hearing impairment Disproportionate short-limb short stature Coxa vara Multiple epiphyseal dysplasia Epiphyseal dysplasia Upper limb undergrowth

Rare Symptoms - Less than 30% cases


Disproportionate short stature Pectus carinatum Limited elbow extension Muscle weakness Congenital hip dislocation Short femoral neck Spondyloepiphyseal dysplasia Short neck Bowing of the long bones Avascular necrosis of the capital femoral epiphysis Short phalanx of finger Broad femoral neck Abnormality of the metaphysis Skeletal dysplasia Barrel-shaped chest Osteochondritis Dissecans Brachydactyly Hip osteoarthritis Irregular epiphyses Knee pain Delayed skeletal maturation Irregular vertebral endplates Flattened epiphysis Small epiphyses Synostosis of carpal bones Acetabular dysplasia Dislocated radial head Thoracic scoliosis Finger clinodactyly Bilateral sensorineural hearing impairment Thin vermilion border Talipes Hip dislocation Shallow acetabular fossae Lower limb asymmetry Bilateral talipes equinovarus Delayed speech and language development Finger syndactyly Sensorineural hearing impairment Myelopathy Thoracolumbar kyphosis Broad phalanx Broad metatarsal Arthralgia of the hip Atlantoaxial instability Small forehead Flattened femoral head Global developmental delay Hypertelorism Disproportionate short-trunk short stature Broad forehead Abnormal facial shape Flexion contracture Wide nasal bridge Talipes equinovarus Anteverted nares Syndactyly Midface retrusion Clinodactyly Clinodactyly of the 5th finger Prominent forehead Dislocation of the femoral head Distal amyotrophy Ataxia Motor polyneuropathy Hammertoe Steppage gait Decreased motor nerve conduction velocity Axonal degeneration Decreased number of peripheral myelinated nerve fibers Onion bulb formation Heart block Abnormal pupil morphology Spinal deformities Foot dorsiflexor weakness Neuritis Limb tremor Ulnar claw Hypertrophic nerve changes Myelin outfoldings Tonic pupil Chronic sensorineural polyneuropathy Trophic changes related to pain Decreased nerve conduction velocity Chronic diarrhea Peripheral neuropathy Hyporeflexia Skeletal muscle atrophy Optic atrophy Tremor Cardiomyopathy Blindness Vomiting Diarrhea Areflexia Pes cavus Split hand Diabetes mellitus Distal muscle weakness Limb muscle weakness Abnormality of the foot Nausea Distal sensory impairment Sensory neuropathy Polyneuropathy Peripheral demyelination Hypoplastic pelvis Mesomelia Metaphyseal irregularity Depressed nasal bridge Progressive leg bowing Joint hyperflexibility Short foot Abnormality of the hip bone Intestinal polyposis Hamartomatous polyposis Irregular carpal bones Frontal bossing Short lower limbs Myopathy Proximal muscle weakness Hypodontia Abnormal joint morphology Hypoplasia of the capital femoral epiphysis Knee osteoarthritis Ankle pain Joint stiffness Metaphyseal sclerosis Abnormality of the head Joint dislocation Childhood-onset short-trunk short stature Malar flattening Arthritis Short thorax Thoracic kyphosis Hypoplastic iliac wing Synovitis Hip pain Cervical subluxation Motor delay Carpal bone hypoplasia Abnormality of the dentition Carious teeth Reduced bone mineral density Metaphyseal widening Bowing of the legs Femoral bowing Metaphyseal dysplasia Metaphyseal chondrodysplasia Round face Delayed epiphyseal ossification Short metatarsal Dorsal subluxation of ulna Madelung deformity Abnormality of the carpal bones Multiple exostoses Mesomelic short stature Long fibula Limited wrist movement Shortening of the tibia Abnormal metatarsal morphology Increased carrying angle Abnormality of the humerus Intellectual disability Myopia Posteriorly rotated ears Mandibular prognathia Coarse facial features Joint laxity Small hand Decreased body weight Limited elbow movement Short 4th metacarpal Ovoid vertebral bodies Tall stature Generalized joint laxity Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement High palate Conductive hearing impairment High, narrow palate Short toe Radial bowing Coxa valga Hypoplasia of the radius Skeletal muscle hypertrophy Hypoplasia of the ulna Tibial bowing Gonadal dysgenesis Fibular hypoplasia Short tibia Cold-induced muscle cramps



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