Short stature, and Abnormality of extrapyramidal motor function

Diseases related with Short stature and Abnormality of extrapyramidal motor function

In the following list you will find some of the most common rare diseases related to Short stature and Abnormality of extrapyramidal motor function that can help you solving undiagnosed cases.

Top matches:

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Other less relevant matches:

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

LEBER OPTIC ATROPHY AND DYSTONIA Is also known as leber hereditary optic neuropathy with dystonia|ldyt|dystonia, familial, with visual failure and striatal lucencies|marsden syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about LEBER OPTIC ATROPHY AND DYSTONIA

NEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

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

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Top 5 symptoms//phenotypes associated to Short stature and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Short stature and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Chorea Hypertonia Optic atrophy Delayed speech and language development Myoclonus Cognitive impairment Rigidity Nystagmus Tremor Ataxia Athetosis Gait disturbance Choreoathetosis Intellectual disability, mild Difficulty walking Dysphagia Scoliosis Absent speech Bradykinesia

Rare Symptoms - Less than 30% cases

Opisthotonus Muscular hypotonia Dementia Cerebral cortical atrophy Facial grimacing Muscular hypotonia of the trunk Irritability Neurodegeneration Tetraparesis Spastic tetraparesis Loss of speech Exaggerated startle response Visual impairment Clumsiness Strabismus Oral-pharyngeal dysphagia Skeletal muscle atrophy Involuntary movements Spastic gait Fever Generalized amyotrophy Mental deterioration Microcephaly Flexion contracture Spastic tetraplegia Tetraplegia Hyperactive deep tendon reflexes Attention deficit hyperactivity disorder Babinski sign Gait ataxia Urinary incontinence Cerebellar atrophy Generalized myoclonic seizures Paraparesis Hearing impairment Spastic paraparesis Frequent falls Lower limb spasticity Leukodystrophy CNS hypomyelination Gout Hip dislocation Self-mutilation Hyperuricemia Proximal placement of thumb Toe walking Self-injurious behavior Cerebellar vermis atrophy Motor deterioration Specific learning disability Megaloblastic anemia Polyneuropathy Optic nerve hypoplasia Inability to walk Bladder stones Excessive purine production Hyperuricosuria Testicular atrophy Status epilepticus Delayed ability to walk Falls Hyperactivity Poor speech Focal dystonia Dysmetria Unsteady gait Dyslexia Cerebral hypomyelination Rotary nystagmus Parkinsonism Kyphosis Vomiting Hypoplastic acetabulae Nephropathy Anterior beaking of lumbar vertebrae Decreased beta-galactosidase activity Pain Anemia Behavioral abnormality Angiokeratoma Renal insufficiency Clinodactyly Hematuria Clinodactyly of the 5th finger Arthritis Aggressive behavior Stuttering Recurrent urinary tract infections Pes cavus Progressive spasticity Platyspondyly Intention tremor Cerebral palsy Abnormality of the face Opacification of the corneal stroma Slurred speech Abnormality of blood and blood-forming tissues Nephrolithiasis Finger clinodactyly Stereotypy Generalized dystonia Diffuse cerebral atrophy Flared iliac wings Visceromegaly Foam cells Postural tremor Neonatal hypotonia Jerky ocular pursuit movements Limb ataxia Torticollis Urinary urgency Difficulty running Titubation Impaired distal vibration sensation Upgaze palsy Postural instability Impaired visuospatial constructive cognition Failure to thrive Muscle weakness Blindness EEG abnormality Cerebral atrophy Anxiety Optic disc pallor Generalized tonic-clonic seizures Postnatal growth retardation Paraplegia Eyelid myoclonus Cortical myoclonus Myokymia Cardiomyopathy Reduced visual acuity Spastic paraplegia Abnormality of movement Neutropenia Epileptic encephalopathy Hypomimic face Aciduria Arnold-Chiari type I malformation Horizontal nystagmus Restlessness 3-Methylglutaconic aciduria Abnormal facial shape Developmental regression Paralysis Macrotia Myoclonic absences Abnormality of the cerebral white matter Ophthalmoplegia Abnormality of eye movement Increased serum lactate Progressive visual loss Ragged-red muscle fibers Scotoma Diarrhea Centrally nucleated skeletal muscle fibers Optic neuropathy Central scotoma Increased CSF lactate Leber optic atrophy Feeding difficulties Hypoplasia of the corpus callosum Visual loss Peripheral neuropathy Abnormal pyramidal sign Progressive spastic quadriplegia Severe global developmental delay Aspiration Poor head control Apathy Limb dystonia Primitive reflex Inappropriate behavior Pseudobulbar signs GM2-ganglioside accumulation Hyperacusis Cherry red spot of the macula Abnormal involuntary eye movements Infantile axial hypotonia Glabellar reflex Punctate periventricular T2 hyperintense foci Abnormal fear/anxiety-related behavior Podagra


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