Generalized hypotonia, and Hip dysplasia

Diseases related with Generalized hypotonia and Hip dysplasia

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

Top matches:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hip dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Talipes equinovarus Short stature Wide nasal bridge Abnormal facial shape Arthrogryposis multiplex congenita Flexion contracture Unsteady gait Absent speech Inability to walk Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Poor speech Cognitive impairment Delayed speech and language development Visual impairment Dysarthria Clinodactyly Optic atrophy Anteverted nares Hyperreflexia Gait ataxia Difficulty walking Dysmetria Hypertelorism Pes planus Abnormality of the skeletal system High palate Muscle weakness Feeding difficulties Cerebral atrophy Dystonia Tapered finger Nystagmus Thin upper lip vermilion Ataxia Stereotypy Poor head control Failure to thrive Microretrognathia Delayed myelination Hyperactivity Autism Right ventricular hypertrophy Muscular hypotonia Autistic behavior Right ventricular failure Nephrogenic diabetes insipidus Giant cell hepatitis Restrictive deficit on pulmonary function testing Muscle fiber atrophy Axial muscle weakness Talipes calcaneovalgus Cleft palate Pain Brachydactyly Gait disturbance Cholestatic liver disease Increased muscle lipid content Conjugated hyperbilirubinemia Intermittent episodes of respiratory insufficiency due to muscle weakness Jaundice Elevated hepatic transaminase Ventricular septal defect Low-set ears Absent muscle fiber merosin Ichthyosis Nephropathy Nocturnal hypoventilation Metabolic acidosis Sloping forehead Nephrocalcinosis Weakness of facial musculature Lissencephaly Renal tubular acidosis Limited neck flexion Poor eye contact Growth abnormality Clinodactyly of the 5th finger Upslanted palpebral fissure Bruxism Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Strabismus Ventriculomegaly Pes cavus Deeply set eye Knee pain Abnormality of the pinna Mild microcephaly Facial hypotonia Hypermetropia Single transverse palmar crease Cerebellar vermis hypoplasia Drooling Optic nerve hypoplasia Limited elbow flexion Hip subluxation Skeletal dysplasia Metaphyseal irregularity Arthralgia Rigidity Arthritis Small hand Short metacarpal Osteoarthritis Overlapping toe Epiphyseal dysplasia Spondyloepiphyseal dysplasia Flat capital femoral epiphysis Short middle phalanx of finger Mild short stature Metatarsus adductus Generalized amyotrophy Bilateral talipes equinovarus Short finger Multiple epiphyseal dysplasia Abnormality of the knee Spinal rigidity Abnormality of the foot High pitched voice EEG abnormality Tremor Cerebellar atrophy Cerebellar hypoplasia Prominent forehead Osteoporosis Osteopenia Abnormal cerebellum morphology Atypical absence seizures Generalized-onset seizure Narrow forehead Apraxia Status epilepticus Cerebral visual impairment Infantile muscular hypotonia Brisk reflexes Myopia Knee dislocation Hernia Hypsarrhythmia Babinski sign Irritability Abnormality of the cerebral white matter Tetraplegia Generalized myoclonic seizures Febrile seizures Spastic tetraplegia Progressive microcephaly Hammertoe Decreased light- and dark-adapted electroretinogram amplitude Intellectual disability, severe Intellectual disability, mild Intellectual disability, moderate Camptodactyly of finger Hip dislocation Absence seizures Behavioral abnormality Constipation Multiple joint contractures Distal arthrogryposis Sandal gap Impaired vibratory sensation Sensory axonal neuropathy Myopathic facies Long nose Narrow nasal bridge Delayed ability to walk Impaired proprioception Broad-based gait Sensory ataxia Impaired tactile sensation Congestive heart failure Mandibular prognathia Mitral valve prolapse Delayed gross motor development Congenital muscular dystrophy Joint contracture of the hand Sensory neuropathy Narrow mouth Short chin High forehead Gastroesophageal reflux Umbilical hernia Anxiety Attention deficit hyperactivity disorder Prominent nasal bridge Wide nose Impulsivity Peripheral axonal neuropathy Motor delay Peripheral neuropathy Respiratory insufficiency Areflexia Camptodactyly Distal muscle weakness Arachnodactyly Happy demeanor


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Cyanosis, related diseases and genetic alterations Myopia and Dystonia, related diseases and genetic alterations Cognitive impairment and Colon cancer, related diseases and genetic alterations Strabismus and Frontal bossing, related diseases and genetic alterations Nystagmus and Congestive heart failure, related diseases and genetic alterations