Spasticity, and Postaxial polydactyly

Diseases related with Spasticity and Postaxial polydactyly

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


Top matches:

Low match JOUBERT SYNDROME 24; JBTS24


Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

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Other less relevant matches:

Low match PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER


NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Low match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Low match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Low match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Low match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Top 5 symptoms//phenotypes associated to Spasticity and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Postaxial polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Generalized hypotonia Nystagmus Encephalocele Epicanthus Growth delay Rigidity Renal dysplasia Hepatic fibrosis Multicystic kidney dysplasia Molar tooth sign on MRI Respiratory insufficiency Cystic renal dysplasia Pulmonary hypoplasia Edema Cerebellar hypoplasia Gait disturbance Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases


Brachydactyly Hirsutism Apnea Long philtrum Short nose Hypertonia Feeding difficulties in infancy Optic atrophy Dilatation Feeding difficulties Oral cleft Smooth philtrum Cerebellar vermis hypoplasia Abnormality of cardiovascular system morphology Intellectual disability, profound Polyhydramnios Inguinal hernia Upslanted palpebral fissure Muscular hypotonia Tremor Strabismus Hypertelorism Congenital hepatic fibrosis Portal hypertension Respiratory failure Hepatomegaly Micromelia Intestinal malrotation Macrocephaly Renal cyst Downslanted palpebral fissures Frontal bossing Stage 5 chronic kidney disease Occipital encephalocele Cholestasis Anteverted nares Motor delay Hyperreflexia Absent speech Macular dystrophy Abnormality of the eye Abnormality of eye movement Abnormality of the kidney Rod-cone dystrophy Peripheral neuropathy Polymicrogyria Failure to thrive Depressed nasal bridge Renal hypoplasia Renal insufficiency Scoliosis Ptosis Visual impairment Hypertension Talipes Hypermetropia Hydrocephalus Intellectual disability, severe Splenomegaly Anal atresia Agenesis of corpus callosum Hypoplastic colon Elevated hepatic transaminase Abnormality of the nervous system Intellectual disability, moderate Wide mouth Abnormality of the liver Craniosynostosis Coloboma Prominent nasal bridge Talipes equinovarus Long face Extrapulmonary sequestrum Hypoplasia of the small intestine Depressed nasal ridge Protuberant abdomen Omphalocele Abnormality of the face Thickened skin Hydrops fetalis Muscle stiffness Hemivertebrae Redundant skin Premature graying of hair Cystic hygroma Limb undergrowth Generalized hyperpigmentation Enlarged kidney Hypopigmentation of the skin Broad neck Specific learning disability Polysplenia Rib fusion Oxycephaly Subcortical cerebral atrophy Lymphangioma Cirrhosis Ascites Pancreatic fibrosis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula Abnormality of the cerebellar vermis Nephropathy Iris coloboma Hypoplasia of the radius Poor speech Metabolic acidosis Renal tubular acidosis Proximal renal tubular acidosis Ventricular septal defect Respiratory distress Syndactyly Midface retrusion Prominent forehead Cleft lip Dolichocephaly Narrow chest Short ribs Relative macrocephaly Aggressive behavior Thoracic hypoplasia Prominent occiput Thoracic dysplasia Hypoplastic ilia Lateral clavicle hook Horizontal ribs Wide nasal bridge Recurrent infections EEG abnormality Deeply set eye Thick vermilion border Deep philtrum Enlarged cisterna magna Synophrys Neonatal hypotonia Retinal dystrophy Optic nerve coloboma Highly arched eyebrow Round face Gastrointestinal hemorrhage Apraxia Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Chronic kidney disease Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Nephronophthisis Biparietal narrowing Abnormality of abdomen morphology Neoplasm of the liver Acidosis Esophageal varix Cholestatic liver disease Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Aplasia/Hypoplasia of the cerebellar vermis Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Hearing impairment Sensorineural hearing impairment Cleft palate Cryptorchidism Intrauterine growth retardation Hyperactivity Abnormality of the pinna Pachygyria Dysmetria Ventriculomegaly Hyperglutaminemia Episodic ammonia intoxication Low plasma citrulline Microcephaly Micrognathia Hydrometrocolpos Flexion contracture High palate Lower limb hypertonia Delayed speech and language development Distal lower limb muscle weakness Dysphagia Distal lower limb amyotrophy Hypoargininemia Hypoplasia of the corpus callosum Cerebellar atrophy Ankle clonus Kyphosis Lower limb hyperreflexia Pneumonia Posteriorly rotated ears Hyperhidrosis Cerebral cortical atrophy Muscular hypotonia of the trunk Urinary urgency Pectus carinatum Severe global developmental delay Protein avoidance Respiratory alkalosis Single transverse palmar crease Confusion Vomiting Headache Cerebral atrophy Hypospadias Encephalopathy Abnormal heart morphology Thin upper lip vermilion Carcinoma Mental deterioration Irritability Stroke Lethargy Hyperesthesia Hepatic failure Oroticaciduria Coma Gliosis Aciduria Thick lower lip vermilion Pancreatitis Hyperammonemia Acute hepatic failure Alkalosis Episodic ataxia Cerebral edema Episodic vomiting Wide nasal base Paranoia Toe walking Delayed myelination Recurrent respiratory infections Hepatic cysts Babinski sign Aortic valve stenosis Situs inversus totalis Obesity Dysarthria Postaxial foot polydactyly Right ventricular hypertrophy Abnormality of the pancreas Biliary cirrhosis Bile duct proliferation Tapetoretinal degeneration Pancreatic cysts Meningoencephalocele Oligohydramnios Potter facies Multiple glomerular cysts Choroid plexus cyst Abnormal biliary tract morphology Pancreatic dysplasia Abnormal liver parenchyma morphology Cognitive impairment Cataract Agenesis of cerebellar vermis Abnormality of digit Mutism Myopia Short neck Large fontanelles Dandy-Walker malformation Abnormality of extrapyramidal motor function Central hypotonia Impaired vibratory sensation Hypsarrhythmia Tetraparesis Hypertrichosis Progressive microcephaly Spastic tetraparesis Leukoencephalopathy Tented upper lip vermilion Poor suck Rocker bottom foot Long fingers Progressive spasticity Bulbar palsy Hypomimic face Hypogonadism Central apnea Exaggerated startle response Contractures of the large joints Progressive leukoencephalopathy Atrial septal defect Cone/cone-rod dystrophy Patent ductus arteriosus Spastic gait Lower limb spasticity High forehead Hepatosplenomegaly Frequent falls Bradykinesia Infra-orbital crease



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Coloboma, related diseases and genetic alterations Microphthalmia and Cough, related diseases and genetic alterations Edema and Headache, related diseases and genetic alterations Visual impairment and Hypotension, related diseases and genetic alterations

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