Cognitive impairment, and Kyphoscoliosis

Diseases related with Cognitive impairment and Kyphoscoliosis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Kyphoscoliosis that can help you solving undiagnosed cases.


Top matches:

Medium match PARKINSON-DEMENTIA SYNDROME


Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

Low match AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X


Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

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Other less relevant matches:

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Low match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Low match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low 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

Low match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

Top 5 symptoms//phenotypes associated to Cognitive impairment and Kyphoscoliosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Kyphoscoliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Spasticity Skeletal muscle atrophy Dystonia Scoliosis

Rare Symptoms - Less than 30% cases


Short stature Macrotia Proximal muscle weakness Pes planus Microcephaly Downslanted palpebral fissures Hearing impairment Generalized dystonia Hypertelorism Cleft palate Kyphosis High forehead Overgrowth Low-set ears EEG abnormality Coarse facial features Abnormal facial shape Epicanthus Macrocephaly Muscle weakness Areflexia Gait disturbance Nystagmus Arthrogryposis multiplex congenita Polymicrogyria Ophthalmoparesis Dysphagia Gait ataxia Open mouth Visual impairment Absent speech Tremor Dementia Abnormal pyramidal sign Rigidity Mental deterioration Delayed speech and language development Malignant hyperthermia Congenital hip dislocation Limb-girdle muscular dystrophy Myopathic facies Spinal rigidity Centrally nucleated skeletal muscle fibers Nemaline bodies CNS hypomyelination High palate Type 1 muscle fiber predominance Spastic tetraparesis Skeletal myopathy Global brain atrophy Clonus Stooped posture Minicore myopathy Spastic paraparesis Paraparesis Generalized limb muscle atrophy Progressive flexion contractures Decreased muscle mass Respiratory insufficiency Projectile vomiting Sudanophilic leukodystrophy Diffuse cerebral sclerosis Feeding difficulties Motor delay Fever Intrauterine growth retardation Progressive spastic paraparesis Rotary nystagmus Fatigue Corpus callosum atrophy Talipes equinovarus Cardiomyopathy Ankle clonus Myopathy Polyhydramnios Severe failure to thrive Neonatal hypotonia Hypertrophic cardiomyopathy Facial palsy Hip dislocation Muscular dystrophy Talipes Muscle cramps Generalized muscle weakness Decreased fetal movement Rapid neurologic deterioration Hyperreflexia Proptosis Myopia Pigmentary retinopathy Thick corpus callosum Severe expressive language delay Muscular hypotonia Ptosis Wide nasal bridge Anteverted nares Renal insufficiency Polydactyly Abnormality of the liver Coloboma Stage 5 chronic kidney disease Retinal dystrophy Highly arched eyebrow Apraxia Expressive language delay Cerebellar vermis hypoplasia Renal dysplasia Truncal ataxia Oculomotor apraxia Abnormal electroretinogram Molar tooth sign on MRI Nephronophthisis Delayed ability to walk Retinal coloboma Central apnea Episodic tachypnea Elongated superior cerebellar peduncle Neonatal breathing dysregulation Long neck Metopic synostosis Frontal bossing Hyperlordosis Ventriculomegaly Hydrocephalus Cerebellar atrophy Malar flattening Cerebellar hypoplasia Posteriorly rotated ears Prominent forehead Upslanted palpebral fissure Cerebral cortical atrophy Progressive neurologic deterioration Mandibular prognathia Difficulty walking Joint laxity Prominent nasal bridge Slender build Arachnodactyly Long face Abnormal cerebellum morphology Triangular face High myopia Lumbar hyperlordosis Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Long foot Communicating hydrocephalus Leukodystrophy Adrenocorticotropic hormone deficiency Tetraparesis Abnormality of the hand Pes cavus Limb muscle weakness Abnormality of the foot Lower limb muscle weakness Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Sensory impairment Fasciculations Sensorimotor neuropathy Foot dorsiflexor weakness Sensory axonal neuropathy Hypoplasia of the corpus callosum Ankle contracture Sensorineural hearing impairment Cataract Abnormality of the skeletal system Blindness Intellectual disability, mild Immunodeficiency Cleft lip Small for gestational age Micromelia Oral cleft Cleft upper lip Babinski sign Peripheral neuropathy Macroglossia Involuntary movements Abnormality of eye movement Falls Postural instability Parkinsonism Bradykinesia Alzheimer disease Neurofibrillary tangles Lewy bodies Senile plaques Morphological abnormality of the pyramidal tract Inappropriate behavior Respiratory distress Narrow face Movement abnormality of the tongue Torticollis Dysphonia Dysdiadochokinesis Toe walking Limb dystonia Blepharospasm Laryngeal dystonia Torsion dystonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Sunken cheeks Neurodegeneration Mild global developmental delay Hypsarrhythmia Central adrenal insufficiency Carious teeth Delayed puberty Hypodontia Hyperpigmentation of the skin Gynecomastia Melanocytic nevus Adrenal insufficiency Reduced subcutaneous adipose tissue Motor deterioration Upper motor neuron dysfunction Dysarthria Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Hypogonadism Compensated hypothyroidism Failure to thrive Vomiting Cerebral atrophy Myoclonus Muscular hypotonia of the trunk Severe global developmental delay Gliosis Brain atrophy Premature birth Focal-onset seizure Neuronal loss in central nervous system Hypothyroidism Alopecia Hypoplastic scapulae Depressed nasal ridge Bulbar signs Achalasia Externally rotated hips Abnormality of the dentition Wide mouth Synophrys Bulbous nose Thick eyebrow Hirsutism Thick vermilion border Delayed eruption of teeth Hypertrichosis Gingival overgrowth Intellectual disability, severe Low anterior hairline Generalized hirsutism Widely spaced teeth Relative macrocephaly Deep philtrum Peritonitis Gingival fibromatosis Wide nasal base Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Congenital, generalized hypertrichosis Enlarged fossa interpeduncularis



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