Generalized hypotonia, and Arachnodactyly

Diseases related with Generalized hypotonia and Arachnodactyly

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


Top matches:

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Strabismus
  • Behavioral abnormality
  • High forehead


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR

High match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

High match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

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Other less relevant matches:

High match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

High 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

High match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

High match PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY


PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

High match OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18


Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Arachnodactyly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Microcephaly Hypertelorism Pes planus Absent speech Disproportionate tall stature Scoliosis Cerebellar hypoplasia Short stature Feeding difficulties Spasticity Wide nasal bridge Inability to walk Cerebellar atrophy Strabismus Micrognathia Dysmetria Motor delay Cognitive impairment Camptodactyly Growth delay Downslanted palpebral fissures Upslanted palpebral fissure Ataxia Nystagmus Low-set ears

Rare Symptoms - Less than 30% cases


Visual impairment Cerebral atrophy Bulbous nose Macrotia Proteinuria Areflexia Stage 5 chronic kidney disease Polymicrogyria Joint laxity Nephrotic syndrome Short nose Glomerulosclerosis Focal segmental glomerulosclerosis Abnormality of the skeletal system Difficulty walking Tall stature Hypoplasia of the corpus callosum Triangular face Prominent nasal bridge Cerebral cortical atrophy Prominent forehead Myopia Narrow forehead Failure to thrive Malar flattening Anteverted nares Delayed ability to walk Joint contracture of the hand Flexion contracture Neonatal hypotonia Skeletal muscle atrophy Hypoplasia of the brainstem Hyperreflexia Dysarthria Broad-based gait High forehead Pectus carinatum Gait ataxia Babinski sign Open mouth Broad nasal tip Blue sclerae Recurrent fractures Everted lower lip vermilion Severe global developmental delay Bowing of the long bones Wide mouth Postnatal growth retardation Long eyelashes Highly arched eyebrow Overfolded helix Long toe Thin ribs Thin bony cortex Brain atrophy Generalized osteoporosis Postnatal microcephaly Vertebral compression fractures Progressive microcephaly Long palpebral fissure Global brain atrophy Pathologic fracture Femoral bowing Wormian bones Leukodystrophy Mutism CNS hypomyelination Short chin Dental crowding Ulnar deviation of the hand Trigonocephaly Abnormal cerebellum morphology Proptosis Mandibular prognathia Kyphoscoliosis Slender build Hyperlordosis Long face Communicating hydrocephalus Expressive language delay Overgrowth High myopia Lumbar hyperlordosis Sparse eyebrow Large hands Long fingers Long foot Metopic synostosis Long neck Severe postnatal growth retardation Broad forehead Megalencephaly Macrocephaly Frontal bossing Joint hypermobility Ventriculomegaly Hydrocephalus Kyphosis Thick corpus callosum Umbilical hernia Pneumonia Hernia Posteriorly rotated ears Abnormality of the dentition Dysphagia Severe expressive language delay Thick vermilion border Sandal gap Thin vermilion border Nonprogressive cerebellar ataxia Cerebral palsy Abnormality of vision Dysdiadochokinesis Toe walking Cortical gyral simplification Gaze-evoked nystagmus Myopathy Pachygyria Polyhydramnios Small for gestational age Dolichocephaly High, narrow palate Single transverse palmar crease Decreased fetal movement Respiratory insufficiency due to muscle weakness Truncal ataxia Intention tremor Akinesia Cataract Behavioral abnormality Protruding ear Schizophrenia Pyloric stenosis Frontal upsweep of hair Joint contracture of the 5th finger Muscular hypotonia Tremor Progressive cerebellar ataxia Gait disturbance Intellectual disability, severe Abnormality of metabolism/homeostasis Intellectual disability, moderate Abnormality of the eye Poor speech Abnormality of movement Poor suck Scaphocephaly Smooth philtrum Intrauterine growth retardation Long nose Narrow nasal bridge Distal arthrogryposis Impaired proprioception Sensory ataxia Impaired tactile sensation Esotropia Sensory axonal neuropathy Minimal change glomerulonephritis Hearing impairment Hypertonia Long philtrum Muscular hypotonia of the trunk Abnormality of the pinna Generalized tonic-clonic seizures Myopathic facies Impaired vibratory sensation Fetal akinesia sequence Respiratory insufficiency Overlapping fingers Oval face Tapered finger Diffuse mesangial sclerosis Muscle weakness Peripheral neuropathy Talipes equinovarus Thin upper lip vermilion Poor head control Distal muscle weakness Arthrogryposis multiplex congenita Abnormality of the foot Unsteady gait Peripheral axonal neuropathy Sensory neuropathy Hip dysplasia Biconcave vertebral bodies



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