Brachydactyly, and Gait disturbance

Diseases related with Brachydactyly and Gait disturbance

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


Top matches:

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE


Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

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Other less relevant matches:

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 FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Low 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

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM


The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

Related symptoms:

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

Top 5 symptoms//phenotypes associated to Brachydactyly and Gait disturbance

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Short metacarpal Uncommon - Between 30% and 50% cases
Growth abnormality Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia Waddling gait Pain Scoliosis Irregular vertebral endplates Spondyloepiphyseal dysplasia Platyspondyly Mild short stature Generalized hypotonia Abnormal joint morphology Short femoral neck Flared metaphysis Epiphyseal dysplasia Severe short stature Joint stiffness Abnormal facial shape Limitation of joint mobility Small hand Genu valgum Kyphoscoliosis Arthritis Flexion contracture

Rare Symptoms - Less than 30% cases


Multiple epiphyseal dysplasia Lumbar hyperlordosis Hearing impairment Limited elbow flexion Abnormality of the knee Disproportionate short stature Limited elbow extension Delayed epiphyseal ossification Flat capital femoral epiphysis Back pain Short metatarsal Hyperlordosis Ovoid vertebral bodies Short toe Global developmental delay Beaking of vertebral bodies Thoracolumbar kyphosis Hip dysplasia Short phalanx of finger Frontal bossing Myopia Enlarged joints Cleft palate Metaphyseal irregularity Intellectual disability Coxa vara Bowing of the legs Short nose Depressed nasal bridge Kyphosis Thin upper lip vermilion Delayed skeletal maturation Low-set ears Growth delay Unsteady gait Joint laxity Genu varum Fever Anteverted nares Atrial septal defect Vomiting Flared iliac wings Behavioral abnormality Constipation Posteriorly rotated ears Autism Gastroesophageal reflux Anxiety Hyperactivity Narrow femoral neck Delayed speech and language development Arthropathy Stiff neck Hip pain Mild myopia Sensorineural hearing impairment Motor delay Abnormality of the skeletal system Thoracic kyphosis Feeding difficulties Narrow iliac wings Microcephaly Intervertebral space narrowing Periarticular calcification Autistic behavior Strabismus Low-set, posteriorly rotated ears Hypermetropia Wide mouth Long hallux Prominent forehead Pes planus Falls Hypoplasia of the radius Cone-shaped epiphyses of the phalanges of the hand Radial bowing Short nail Abnormality of the patella Broad finger Broad metatarsal Broad phalanx Broad metacarpals Acromesomelia Lower thoracic kyphosis Thoracolumbar interpediculate narrowness Double-layered patella Hypoplasia of the femoral head Attention deficit hyperactivity disorder Talipes equinovarus Broad forehead Hypoplastic pelvis Short foot Small nail Broad-based gait Obsessive-compulsive behavior Muscular hypotonia Clinodactyly Knee pain Clinodactyly of the 5th finger Rigidity Short middle phalanx of finger Metatarsus adductus Bilateral talipes equinovarus Short finger Hip subluxation Hypoplastic ilia Short long bone Absent speech Narrow chest Abnormality of epiphysis morphology Abnormality of the face Micromelia Short palm Round face Abnormality of the foot Joint dislocation Lumbar scoliosis Disproportionate short-limb short stature Pectus carinatum High forehead Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Premature pubarche Lower limb undergrowth Broad femoral neck Severe carpal ossification delay Abnormality of the rib cage Spondylometaphyseal dysplasia Carpal bone hypoplasia Aplastic clavicle Caudal appendage Irregular acetabular roof Irregular, rachitic-like metaphyses Spondyloepimetaphyseal dysplasia Flat acetabular roof Hirsutism Hypoplasia of the odontoid process Amenorrhea Acne Short thorax Secondary amenorrhea Small epiphyses Hip osteoarthritis Trismus Deeply set eye Osteochondritis Dissecans Decreased hip abduction Quadriceps muscle atrophy Abnormality of skeletal physiology Neonatal hypotonia Muscle weakness Difficulty walking Abnormal cardiac septum morphology Limb muscle weakness Coxa valga Disproportionate short-trunk short stature Narrow mouth Vertebral fusion Spinal canal stenosis Low back pain Abnormality of tibia morphology Pseudoepiphyses Sandal gap Premature osteoarthritis Short fourth metatarsal Limited hip movement Short neck Midface retrusion Hyperplasia of the maxilla Hypopigmentation of the skin Exostoses Short thumb Accelerated skeletal maturation Inability to walk Broad hallux Flat face Proportionate short stature Joint swelling Redundant skin on fingers



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