Ataxia, and Hip dysplasia

Diseases related with Ataxia and Hip dysplasia

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


Top matches:

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Medium match GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME


Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

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Other less relevant matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Hip dysplasia

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Hip dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Deeply set eye Microcephaly Abnormality of the skeletal system Peripheral neuropathy Short stature Unsteady gait Strabismus Myopia Dysarthria Delayed speech and language development Abnormal facial shape Myopathy Cataract Congenital cataract Synophrys Difficulty walking Inability to walk Tremor Infantile muscular hypotonia Areflexia High palate Optic atrophy Feeding difficulties Hearing impairment Kyphosis Thin upper lip vermilion Anteverted nares Aggressive behavior Micrognathia Cerebral cortical atrophy Hyporeflexia Absent speech Dystonia Hypoplasia of the corpus callosum Gait disturbance Sandal gap Protruding ear Visual impairment Constipation Cerebellar hypoplasia Growth delay Osteopenia EEG abnormality Poor speech Dysmetria Intellectual disability, severe Motor delay Cognitive impairment Flexion contracture Apraxia Ptosis Muscle weakness Brachycephaly

Rare Symptoms - Less than 30% cases


Muscle stiffness Skeletal muscle atrophy Limb ataxia Hypertonia Behavioral abnormality Recurrent ear infections Hypertelorism Abnormal levels of creatine kinase in blood Muscular hypotonia Cryptorchidism Bradykinesia Athetosis Truncal ataxia Low-set ears Optic nerve hypoplasia Hypogonadism Frontal bossing Cerebral atrophy Absence seizures Elevated serum creatine phosphokinase Esotropia Distal amyotrophy Long face Pectus carinatum Hypergonadotropic hypogonadism Short nose Attention deficit hyperactivity disorder Ventriculomegaly Muscular dystrophy Progressive cerebellar ataxia Stereotypy Cerebellar vermis hypoplasia Focal-onset seizure Hypermetropia Upslanted palpebral fissure Pes cavus Clinodactyly Malar flattening Autism Intrauterine growth retardation Downslanted palpebral fissures Peripheral axonal neuropathy Macrotia Abnormality of the foot Bulbous nose Short palm Pectus excavatum Downturned corners of mouth Encephalopathy Broad forehead Pes planus Talipes equinovarus Dysphagia Myopathic facies Hyperreflexia Rigidity Wide nasal bridge Brachydactyly Autistic behavior Postnatal growth retardation Prominent forehead Gastroesophageal reflux Abnormality of eye movement Neurodegeneration Self-injurious behavior Anxiety Osteoporosis Generalized-onset seizure Dyskinesia Hirsutism Microcornea Sparse hair Smooth philtrum Joint hypermobility Short metacarpal Progressive muscle weakness Decreased antibody level in blood Proptosis Specific learning disability Long philtrum Hypertrichosis Neurological speech impairment Short thumb Sensorimotor neuropathy Short neck Abnormality of lower lip Hip dislocation Sacral dimple High, narrow palate Oral-pharyngeal dysphagia Nasolacrimal duct obstruction Gait imbalance Toenail dysplasia Depressed nasal tip Short digit Aplasia cutis congenita Spastic diplegia Sleep-wake cycle disturbance Caesarian section Flat occiput Prominent coccyx Thickened ears Broad chin Prominent protruding coccyx Talipes cavus equinovarus Broad nasal tip Intellectual disability, moderate Eczema Pointed chin Microretrognathia Reduced tendon reflexes Thickened helices Delayed gross motor development Kyphoscoliosis Abnormality of the septum pellucidum Prominent supraorbital ridges Severe short stature Recurrent infections Chronic otitis media Epicanthus Failure to thrive Coxa valga Anemia Type I diabetes mellitus Metatarsus adductus Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Bilateral cryptorchidism Restlessness Melanocytic nevus Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Clonus Striae distensae Insulin-resistant diabetes mellitus Thickened skin Abnormal glucose tolerance Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Irregular vertebral endplates Ectopic calcification Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Gynecomastia Abnormal form of the vertebral bodies Abnormality of the metacarpal bones Autophagic vacuoles Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Avascular necrosis of the capital femoral epiphysis Hemifacial hypoplasia Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Congenital muscular dystrophy Cubitus valgus Short metatarsal Dysphonia Neoplasm Macrocephaly Sparse scalp hair Abnormal pyramidal sign Thick lower lip vermilion Cerebral calcification Otitis media Nevus Hypoplasia of the maxilla Short distal phalanx of finger Genu valgum Narrow chest Prominent nasal bridge Developmental regression Hydrocephalus Conductive hearing impairment Hypothyroidism Narrow mouth Diabetes mellitus Agenesis of corpus callosum Babinski sign Midface retrusion Microphthalmia Intellectual disability, mild Paroxysmal bursts of laughter Speech apraxia Macrodontia Chronic diarrhea Akinesia Personality changes Apathy Slurred speech Hyperkinesis Mutism Hallucinations Involuntary movements Alzheimer disease Clumsiness Psychosis Spastic tetraplegia Abnormality of extrapyramidal motor function Memory impairment Brain atrophy Gliosis Emotional lability Global brain atrophy Tetraplegia Cerebral amyloid angiopathy Poor eye contact Overlapping toe Drooling Delayed myelination Single transverse palmar crease Tapered finger Abnormality of the pinna Perseveration Aphasia Dysesthesia Supranuclear gaze palsy Hypomimic face Lewy bodies Impaired smooth pursuit Insomnia Neurofibrillary tangles Parkinsonism Coma Mild microcephaly Arthrogryposis multiplex congenita Sensory axonal neuropathy Impaired vibratory sensation Poor head control Joint contracture of the hand Broad-based gait Sensory neuropathy Arachnodactyly Distal muscle weakness Narrow nasal bridge Camptodactyly Respiratory insufficiency Brisk reflexes Cerebral visual impairment Status epilepticus Narrow forehead Abnormal cerebellum morphology Long nose Delayed ability to walk Paresthesia Myoclonus Confusion Lower limb muscle weakness Limb muscle weakness Paralysis Mental deterioration Abnormality of the eye Weight loss Dementia Distal arthrogryposis Visual loss Depressivity Diarrhea Blindness Impaired tactile sensation Sensory ataxia Impaired proprioception Facial hypotonia Bruxism Short attention span Coarse facial features Small hand Thick eyebrow Astigmatism Facial asymmetry Microtia Wide mouth Feeding difficulties in infancy Retrognathia Highly arched eyebrow Hyperactivity Clinodactyly of the 5th finger Vomiting Fever Exophoria Cerebral white matter atrophy Intellectual disability, borderline Everted lower lip vermilion Short foot Alacrima Finger clinodactyly Polyphagia Cupped ear Language impairment Focal impaired awareness seizure Tented upper lip vermilion Widely spaced teeth Short chin Generalized hirsutism Sleep disturbance Low anterior hairline Dental crowding Open mouth Hypoplasia of penis Epileptic encephalopathy Febrile seizures Prominent nose Right ventricular dilatation Muscle fiber atrophy Happy demeanor Aciduria Proximal muscle weakness Elevated hepatic transaminase Hyperkeratosis Fatigue Hepatomegaly Pain Abnormality of mitochondrial metabolism Increased serum lactate Hyperlordosis Delayed puberty Muscular hypotonia of the trunk Hypertrophic cardiomyopathy High forehead Mandibular prognathia Delayed skeletal maturation Cardiomyopathy Myalgia Abnormality of the liver Achalasia CNS hypomyelination Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Impulsivity Gowers sign Limb-girdle muscular dystrophy Scapular winging Generalized tonic-clonic seizures Lower limb spasticity Waddling gait Chorea Muscle cramps Hepatic steatosis Abnormality of movement Carious teeth Superiorly displaced ears



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Respiratory failure, related diseases and genetic alterations Congestive heart failure and Brachycephaly, related diseases and genetic alterations Flexion contracture and Frontal bossing, related diseases and genetic alterations Peripheral neuropathy and Aganglionic megacolon, related diseases and genetic alterations Muscle weakness and Low-set ears, related diseases and genetic alterations Micrognathia and Colitis, related diseases and genetic alterations

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