Spasticity, and Severe short stature

Diseases related with Spasticity and Severe short stature

In the following list you will find some of the most common rare diseases related to Spasticity and Severe short stature that can help you solving undiagnosed cases.


Top matches:

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 Is also known as alkylglycerone-phosphate synthase deficiency|alkyldihydroxyacetonephosphate synthase deficiency|agps deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15


Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

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Other less relevant matches:

Medium match BILATERAL GENERALIZED POLYMICROGYRIA


BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Medium match DE SANCTIS-CACCHIONE SYNDROME


A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Medium match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Top 5 symptoms//phenotypes associated to Spasticity and Severe short stature

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Micrognathia Growth delay Epicanthus Intellectual disability, severe Failure to thrive Cerebellar atrophy Flexion contracture Hearing impairment Sloping forehead Cataract Pneumonia Ataxia Congenital contracture High palate Rhizomelia

Rare Symptoms - Less than 30% cases


Cognitive impairment Feeding difficulties Motor delay Dysarthria Optic atrophy Congenital cataract Recurrent infections Cryptorchidism Muscle weakness Visual loss Abnormal pyramidal sign Hypothyroidism Muscular hypotonia Leukemia Progressive cerebellar ataxia Hyporeflexia Amblyopia Anteverted nares Sensorineural hearing impairment Abnormality of the skeletal system Short humerus Epiphyseal stippling Nystagmus Metaphyseal irregularity Intrauterine growth retardation Absent speech Cerebellar hypoplasia Agenesis of corpus callosum Craniosynostosis Peripheral neuropathy Irregular vertebral endplates Metaphyseal sclerosis Mild short stature Generalized amyotrophy Thickened skin Abnormality of retinal pigmentation Lymphedema Skin ulcer Coxa vara Abnormality of the hair Muscle stiffness Pointed chin Sinus tachycardia Abnormality of vision Venous thrombosis Status epilepticus Scaling skin Pleural effusion Anophthalmia Cellulitis Underdeveloped supraorbital ridges Abnormal eyelash morphology Gangrene Abnormal eyelid morphology Abnormal toenail morphology Subcutaneous nodule Lymphoma Specific learning disability Upslanted palpebral fissure Thoracic scoliosis Metaphyseal cupping Myopia Edema Ptosis Blindness Hypertonia Short femoral neck Long philtrum Microphthalmia Glaucoma Atrial septal defect Rigidity Abnormality of the eye Protruding ear Retinopathy Vertical nystagmus Wide nose Retinal dystrophy Thick vermilion border Retinal detachment Full cheeks Dry skin Hyperlordosis Retinal dysplasia Autoimmune hemolytic anemia Abnormal lung morphology Recurrent bacterial infections Purpura Encephalitis Systemic lupus erythematosus Nephritis Rheumatoid arthritis Spastic diplegia Combined immunodeficiency Restrictive ventilatory defect Hypermelanotic macule Scleroderma Basal ganglia calcification Recurrent sinusitis Lumbar hyperlordosis Autoimmune thrombocytopenia Vitiligo Narrow nose Barrel-shaped chest Juvenile rheumatoid arthritis Immune dysregulation Spondylometaphyseal dysplasia Cellular immunodeficiency Tubulointerstitial fibrosis Decrease in T cell count Madelung deformity Progressive spastic quadriplegia Arthralgia/arthritis Recurrent otitis media Spastic tetraplegia Abnormality of the optic nerve Recurrent respiratory infections Leukonychia Chylothorax Abnormal nasolacrimal system morphology Erysipelas Panniculitis Chorioretinal dysplasia Melanonychia Low-set ears Anemia Diarrhea Intellectual disability, mild Immunodeficiency Thrombocytopenia Kyphoscoliosis Hepatitis Skeletal dysplasia Arthralgia Arthritis Broad-based gait Respiratory tract infection Autoimmunity Platyspondyly Abnormality of the cerebral white matter Micromelia Lymphadenopathy Hemolytic anemia Tetraplegia Cerebral calcification Decreased body weight Recurrent hypoglycemia Peripheral demyelination Abnormality of the spinal cord Pachygyria Heterotopia Spastic tetraparesis Lissencephaly Unilateral renal agenesis Multiple joint contractures Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Duodenal atresia Abnormal corpus callosum morphology Gray matter heterotopias Polymicrogyria Short corpus callosum Areflexia Photophobia Abnormality of the nervous system Mental deterioration Cutaneous photosensitivity Progressive neurologic deterioration Choreoathetosis Telangiectasia Conjunctivitis Melanoma Dermal atrophy Tetraparesis Poor speech Keratitis Dysphagia Short femur Abnormal facial shape Cardiomyopathy Small hand Short foot Round face Prominent nose Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Tremor Hypoplasia of the corpus callosum Intellectual disability, moderate Dystonia Cerebral atrophy Developmental regression Hypermetropia Inability to walk Abnormal cerebellum morphology Progressive visual loss Intention tremor Leukodystrophy Athetosis Hypospadias EEG abnormality Ectropion Acute lymphoblastic leukemia Asthma Central heterochromia Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Titubation Alopecia areata Choroideremia Long eyebrows Generalized hypotonia Clumsiness Scoliosis Depressed nasal bridge High forehead Osteopenia Large fontanelles Abnormality of pelvic girdle bone morphology Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Talipes equinovarus Pes cavus Sensory neuropathy Long eyelashes Sparse scalp hair Poikiloderma Hypoglycemia Olivopontocerebellar atrophy Entropion Defective DNA repair after ultraviolet radiation damage Gonadal hypoplasia Frontal bossing Obesity Alopecia Rod-cone dystrophy Hypogonadism Micropenis Gait ataxia Pallor Hypoplasia of penis Sparse hair Distal muscle weakness Small for gestational age Spastic paraplegia Delayed puberty Paraplegia Peripheral axonal neuropathy Retinal degeneration Distal amyotrophy Thick eyebrow Growth hormone deficiency Pigmentary retinopathy Hypopigmented skin patches on arms



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