Tremor, and Platyspondyly

Diseases related with Tremor and Platyspondyly

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

Top matches:

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Other less relevant matches:

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).

Related symptoms:

  • Short stature
  • Pain
  • Arthralgia
  • Platyspondyly
  • Waddling gait


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR

Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE Is also known as spondylometaphyseal dysplasia, sutcliffe type

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Kyphoscoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE Is also known as semd, missouri type|spondyloepimetaphyseal dysplasia type 2|semd type 2

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Skeletal dysplasia
  • Platyspondyly
  • Micromelia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI 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

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

Top 5 symptoms//phenotypes associated to Tremor and Platyspondyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Waddling gait Uncommon - Between 30% and 50% cases
Genu varum Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Tremor and Platyspondyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation Micromelia Gait disturbance Coxa vara Hypoplasia of the odontoid process Osteoarthritis Flared iliac wings Bowing of the legs Abnormality of epiphysis morphology Intellectual disability Hyperlordosis Genu valgum Spondyloepimetaphyseal dysplasia Delayed speech and language development Seizures Ataxia

Rare Symptoms - Less than 30% cases

Flared metaphysis Hyperreflexia Abnormality of the metaphysis Depressed nasal bridge Spondylometaphyseal dysplasia Metaphyseal irregularity Short neck Flat acetabular roof Gait ataxia High forehead Skeletal dysplasia Kyphoscoliosis Small epiphyses Enlarged joints Ovoid vertebral bodies Generalized hypotonia Limited elbow extension Disproportionate short-limb short stature Short long bone Irregular acetabular roof Metaphyseal dysplasia Arthralgia Beaking of vertebral bodies Microcephaly Limitation of joint mobility Global developmental delay Angiokeratoma Mental deterioration Abnormality of the face Myoclonus Slurred speech Dystonia Dysarthria Cognitive impairment Spasticity Visceromegaly Intention tremor Horizontal nystagmus Falls Pectus excavatum Severe short stature Abnormal cerebellum morphology Thick eyebrow Short metacarpal Flat face Limb undergrowth Delayed ossification of carpal bones Lumbar hyperlordosis Unsteady gait Short foot Metaphyseal widening Short palm Thoracic hypoplasia Bowing of the long bones Abnormality of the hip bone Hemivertebrae Thoracic hemivertebrae Oculomotor apraxia Infantile muscular hypotonia Truncal ataxia Frequent falls Mild microcephaly Nonprogressive cerebellar ataxia Monotonic speech Apraxia Clumsiness Joint hyperflexibility Pain Cerebellar vermis hypoplasia Hamartomatous polyposis Intestinal polyposis Abnormality of the distal phalanx of the thumb Caudal appendage Irregular, rachitic-like metaphyses Radial bowing Abnormality of movement Small hand Abnormality of the foot Narrow chest Rhizomelia Pectus carinatum Femoral bowing Tibial bowing Brachydactyly Growth abnormality Metaphyseal chondrodysplasia Growth delay Metaphyseal cupping Ulnar bowing Flattened epiphysis Short lower limbs Flared, irregular rib ends Pear-shaped vertebrae Hyperconvex vertebral body endplates Abnormality of the wrist Severe carpal ossification delay Pes planus Irregular sclerotic endplates Irregular epiphyses Narrow iliac wings Hypoplastic pubic bone Posterior rib cupping Metaphyseal spurs Dysplastic iliac wings Aplastic clavicle Carpal bone hypoplasia Epiphyseal dysplasia Abnormality of the rib cage Recurrent fractures Tetralogy of Fallot Disproportionate short-trunk short stature Abnormal joint morphology Short thorax Mild short stature Short femoral neck Dysmetria Vacuolated lymphocytes Synophrys Intellectual disability, severe Nystagmus Abnormal facial shape Muscular hypotonia Cataract Motor delay Hepatomegaly Abnormality of the skeletal system Anteverted nares Cardiomyopathy Edema Blindness Decreased beta-galactosidase activity Diarrhea Behavioral abnormality Splenomegaly Long philtrum Cerebral atrophy Recurrent infections Abnormality of metabolism/homeostasis Hernia Visual loss Inguinal hernia Recurrent respiratory infections Hearing impairment Anterior beaking of lumbar vertebrae Hyperactivity Opacification of the corneal stroma Skeletal muscle atrophy Hypertonia Intellectual disability, mild Pes cavus Rigidity Neurodegeneration Parkinsonism Chorea Urinary incontinence Abnormality of extrapyramidal motor function Tetraparesis Spastic tetraparesis Hypoplastic acetabulae Athetosis Generalized amyotrophy Progressive spasticity Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Loss of speech Generalized dystonia Diffuse cerebral atrophy Foam cells Facial grimacing Stuttering Brachycephaly Coarse facial features Intellectual disability, moderate Adenoma sebaceum Pathologic fracture Muscle fibrillation Thickened calvaria Palpebral edema Dysostosis multiplex Macroorchidism Broad face Spondylolisthesis Abnormality of the ovary Facial edema Hypoplastic frontal sinuses Acne Cranial asymmetry Methemoglobinemia Angiokeratoma corporis diffusum Spondylolysis Oligosacchariduria Angiofibromas Aspartylglucosaminuria Cerebellar atrophy Babinski sign Cerebellar hypoplasia Agenesis of corpus callosum Emotional lability Widely spaced teeth Hepatosplenomegaly Gliosis Hydronephrosis Joint laxity Developmental regression Erythema Wide mouth Nyctalopia Wide nose Neutropenia Ascites Macroglossia Generalized myoclonic seizures Neuronal loss in central nervous system Intellectual disability, progressive Overgrowth Psychosis Thick lower lip vermilion Progressive neurologic deterioration Mitral regurgitation Involuntary movements Chronic diarrhea Gingival overgrowth Hydrops fetalis Aspiration Hoarse voice Irregular carpal bones


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