Brachydactyly, and Unsteady gait

Diseases related with Brachydactyly and Unsteady gait

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


Top matches:

Medium 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

Medium 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

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

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Other less relevant matches:

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

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 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Unsteady gait

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Waddling gait Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Gait disturbance Short metacarpal Platyspondyly Spondyloepiphyseal dysplasia Skeletal dysplasia Growth abnormality Irregular vertebral endplates Flexion contracture Kyphoscoliosis Arthritis Short femoral neck Joint stiffness Genu valgum Mild short stature Limitation of joint mobility Small hand Intellectual disability Abnormal joint morphology Generalized hypotonia Abnormal facial shape Epiphyseal dysplasia Hearing impairment

Rare Symptoms - Less than 30% cases


Muscle weakness Abnormality of the skeletal system Delayed skeletal maturation Global developmental delay Depressed nasal bridge Growth delay Hip dysplasia Flat capital femoral epiphysis Behavioral abnormality Low-set ears Multiple epiphyseal dysplasia Abnormality of the foot Cleft palate Limited elbow flexion Abnormality of the knee Hyperlordosis Delayed epiphyseal ossification Severe short stature Bowing of the legs Motor delay Flared metaphysis Enlarged joints Metaphyseal irregularity Back pain Myopia Difficulty walking Kyphosis Genu varum Thin upper lip vermilion Coxa vara Pseudoepiphyses Small epiphyses Broad femoral neck Hip osteoarthritis Secondary amenorrhea Premature osteoarthritis Short fourth metatarsal Limited hip movement Irregular epiphyses Midface retrusion Amenorrhea Lumbar hyperlordosis Frontal bossing Ovoid vertebral bodies Avascular necrosis of the capital femoral epiphysis Round face Spondyloepimetaphyseal dysplasia Lower limb undergrowth Lumbar scoliosis Premature pubarche Severe carpal ossification delay Micromelia Short palm Irregular, rachitic-like metaphyses Acne Short phalanx of finger Joint dislocation Disproportionate short-limb short stature Irregular acetabular roof Hirsutism Accelerated skeletal maturation Generalized joint laxity Short thumb Short metatarsal Broad hallux Obsessive-compulsive behavior Gastroesophageal reflux Anxiety Low-set, posteriorly rotated ears Autistic behavior Wide mouth Attention deficit hyperactivity disorder Broad forehead Hypermetropia Short foot Small nail Broad-based gait Muscular hypotonia Hyperactivity Talipes equinovarus Clinodactyly Clinodactyly of the 5th finger Rigidity Short middle phalanx of finger Metatarsus adductus Bilateral talipes equinovarus Short finger Hip subluxation Knee pain Hypoplasia of the femoral head Abnormality of the patella Autism Posteriorly rotated ears Limited elbow extension Aplastic clavicle Disproportionate short stature Proportionate short stature Joint swelling Exostoses Abnormality of tibia morphology Low back pain Osteochondritis Dissecans Decreased hip abduction Quadriceps muscle atrophy Abnormality of skeletal physiology Sensorineural hearing impairment Short toe Arthropathy Constipation Thoracic kyphosis Narrow iliac wings Intervertebral space narrowing Periarticular calcification Narrow femoral neck Strabismus Feeding difficulties Delayed speech and language development Fever Anteverted nares Atrial septal defect Vomiting Caudal appendage Short neck Carpal bone hypoplasia Babinski sign Ataxia Nystagmus Spasticity Peripheral neuropathy Hyperreflexia Dysarthria Skeletal muscle atrophy Dysphagia Hypoplasia of the corpus callosum Cerebellar atrophy Pes cavus Mild myopia Myoclonus Gait ataxia EEG abnormality Distal muscle weakness Abnormal pyramidal sign Spastic paraplegia Paraplegia Dysmetria Peripheral axonal neuropathy Falls Distal amyotrophy Seizures Hip pain Abnormal cerebellum morphology Hypopigmentation of the skin Microcephaly Short nose Absent speech Narrow mouth Deeply set eye Neonatal hypotonia Joint laxity Abnormal cardiac septum morphology Flat face Inability to walk Sandal gap Thoracolumbar kyphosis Hyperplasia of the maxilla Limb muscle weakness Coxa valga Short long bone Vertebral fusion Spinal canal stenosis Trismus Beaking of vertebral bodies Hypoplastic pelvis Hypoplastic ilia Stiff neck Distal sensory impairment Progressive cerebellar ataxia Spondylometaphyseal dysplasia Progressive truncal ataxia Gaze-evoked horizontal nystagmus Decreased sensory nerve conduction velocity Vitamin E deficiency Impaired tactile sensation Loss of Purkinje cells in the cerebellar vermis Parietal cortical atrophy Abnormality of the pons Abnormal motor evoked potentials Hypermyelinated retinal nerve fibers Abnormality of the cerebellar peduncle Swan neck-like deformities of the fingers Decreased number of large peripheral myelinated nerve fibers High forehead Pectus carinatum Narrow chest Abnormality of the face Abnormality of epiphysis morphology Short thorax Hypoplasia of the odontoid process Flat acetabular roof Disproportionate short-trunk short stature Flared iliac wings Abnormality of the rib cage Scanning speech Spastic ataxia Urinary incontinence Hammertoe Mitral valve prolapse Cerebellar vermis hypoplasia Intention tremor Lower limb spasticity Sensorimotor neuropathy Foot dorsiflexor weakness Absence seizures Decreased nerve conduction velocity Cone-shaped epiphysis Impaired vibratory sensation Decreased motor nerve conduction velocity Upper motor neuron dysfunction Impotence Urinary urgency Progressive spasticity Progressive spastic paraplegia Cerebellar vermis atrophy Impaired vibration sensation in the lower limbs Arachnoid cyst Progressive gait ataxia Impaired smooth pursuit Demyelinating peripheral neuropathy Absent Achilles reflex Double-layered patella



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