Global developmental delay, and Pes cavus

Diseases related with Global developmental delay and Pes cavus

In the following list you will find some of the most common rare diseases related to Global developmental delay and Pes cavus that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as ri-cmtb|charcot-marie-tooth neuropathy, recessive intermediate b|ri-cmt type b

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Other less relevant matches:

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Top 5 symptoms//phenotypes associated to Global developmental delay and Pes cavus

Symptoms // Phenotype % cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Pes cavus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensory neuropathy Hearing impairment Areflexia Distal sensory impairment Intellectual disability Sensorimotor neuropathy Scoliosis Ataxia Abnormal pyramidal sign Hyporeflexia Foot dorsiflexor weakness Distal muscle weakness Proximal muscle weakness Generalized hypotonia Sensory axonal neuropathy Motor axonal neuropathy Hammertoe

Rare Symptoms - Less than 30% cases

Brisk reflexes Kyphosis Tremor Decreased nerve conduction velocity Intellectual disability, moderate Split hand Nystagmus Dystonia Difficulty walking Peripheral axonal neuropathy Distal amyotrophy Delayed gross motor development Onion bulb formation Limb muscle weakness Flexion contracture Decreased number of peripheral myelinated nerve fibers Elevated serum creatine phosphokinase Seizures Steppage gait Hyperreflexia Dysarthria Progressive cerebellar ataxia Axonal loss Coxa valga Exercise intolerance Coronal craniosynostosis Kyphoscoliosis Focal T2 hypointense basal ganglia lesion Talipes cavus equinovarus Epilepsia partialis continua Increased intramyocellular lipid droplets Slow-growing hair Generalized tonic seizures Increased CSF lactate Central hypotonia Axonal degeneration Neurodevelopmental delay EMG abnormality Abnormality of the foot Gynecomastia Long-tract signs Increased serum lactate Lactic acidosis Stroke Developmental regression Mild intrauterine growth retardation Muscular hypotonia of the trunk Gait ataxia Myoclonus Cerebellar atrophy Strabismus Neck flexor weakness Apnea Polyneuropathy Broad-based gait Brittle hair Bilateral sensorineural hearing impairment Esotropia Microcornea Ichthyosis Dry skin Small for gestational age Delayed skeletal maturation Microcephaly Short stature Cold-induced muscle cramps Progressive distal muscular atrophy Abnormal nervous system electrophysiology Myelin outfoldings Delayed myelination Hypertrophic nerve changes Ulnar claw Axonal regeneration Hypopnea Segmental peripheral demyelination/remyelination Demyelinating peripheral neuropathy Hodgkin lymphoma Neurofibromas Decreased motor nerve conduction velocity Sleep apnea Progressive muscle weakness Decreased number of large peripheral myelinated nerve fibers Lymphoma Peripheral demyelination High pitched voice Myokymia Delayed speech and language development Progressive gait ataxia Impaired pain sensation Impaired smooth pursuit Mydriasis Diffuse cerebellar atrophy Abnormal head movements Sleep disturbance Very long chain fatty acid accumulation Abnormality of phytanic acid metabolism Gait disturbance Failure to thrive High palate Sensorineural hearing impairment Intellectual disability, severe Oculomotor apraxia Myopathy Abnormality of creatine metabolism Organic aciduria Progressive proximal muscle weakness Long fingers Decreased muscle mass Gowers sign Language impairment Failure to thrive in infancy Infantile muscular hypotonia Aciduria Autistic behavior Behavioral abnormality Pain Optic atrophy Distal lower limb muscle weakness Spasticity Autism Schwannoma Dysphonia Fasciculations Clonus Spastic gait Vestibular Schwannoma Sensory impairment Urinary incontinence Muscle cramps Lower limb muscle weakness Babinski sign Hypertonia Hyperreflexia proximally Truncal ataxia Exaggerated startle response Hyporeflexia of lower limbs Distal lower limb amyotrophy Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Multiple joint contractures Intellectual disability, mild Abnormality of extrapyramidal motor function Optic disc pallor Type II diabetes mellitus Paraplegia Spastic paraplegia Limb ataxia Hyperhidrosis Tiger tail banding


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