Obesity, and Tetraparesis

Diseases related with Obesity and Tetraparesis

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


Top matches:

High match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

High match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

High match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

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Other less relevant matches:

High match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Medium match PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM


PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2|pvnh2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C


Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Medium match HYPERLYSINEMIA


Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

HYPERLYSINEMIA Is also known as hyperlysinemia type i|lysine alpha-ketoglutarate reductase deficiency|lysine:alpha-ketoglutarate reductase deficiency|l-lysine:nad-oxido-reductase deficiency|alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERLYSINEMIA

Medium match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Top 5 symptoms//phenotypes associated to Obesity and Tetraparesis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases
Spastic tetraparesis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Obesity and Tetraparesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Seizures Delayed speech and language development Hearing impairment Microcephaly Growth delay Inability to walk Muscle weakness Scoliosis Muscular hypotonia Short stature Abnormality of the nervous system Absent speech Myopia Nystagmus Feeding difficulties Strabismus Anemia Hyperreflexia Ventriculomegaly Abnormality of the skeletal system Poor speech Cerebral atrophy Hypsarrhythmia Spasticity

Rare Symptoms - Less than 30% cases


Hypoplasia of penis Weight loss Midface retrusion Aggressive behavior Malar flattening Hydrocephalus Frontal bossing Depressed nasal bridge Cleft lip Brachydactyly Lactic acidosis Flexion contracture Small for gestational age Gastroesophageal reflux Pain Progressive microcephaly Failure to thrive in infancy Lymphoma Rigidity Dysphagia Leukoencephalopathy Cranial nerve paralysis Heterotopia Optic disc pallor Epileptic encephalopathy Polymicrogyria Abnormality of the cerebral white matter Cerebral cortical atrophy Infantile spasms Behavioral abnormality Gait disturbance Conductive hearing impairment Visual impairment Cognitive impairment Acidosis Epileptic spasms Spinal canal stenosis Neuroblastoma Back pain Respiratory failure Infantile muscular hypotonia Oral cleft Confusion EEG abnormality Pes cavus Autism Developmental regression Lumbar hyperlordosis Hypertonia Muscular hypotonia of the trunk Macrocephaly Overweight Sensorineural hearing impairment Hypertelorism Talipes equinovarus Dysarthria Intellectual disability, severe Cryptorchidism Cleft palate Delayed myelination Abnormal facial shape Micrognathia Hypospadias Long philtrum Downturned corners of mouth Dystonia Kyphosis Micropenis Hyperactivity Deeply set eye Hypogonadism Lower limb spasticity Difficulty walking Ataxia Dilation of lateral ventricles Delayed CNS myelination Self-mutilation Abnormality of the gastrointestinal tract Hiatus hernia Abnormality of the testis Abnormality of the neck Lower limb asymmetry Abnormal eyebrow morphology Coronal craniosynostosis Ocular albinism Short 5th finger Missing ribs Optic nerve coloboma 11 pairs of ribs Delayed closure of the anterior fontanelle Volvulus Periventricular leukomalacia Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Cavum septum pellucidum Redundant neck skin Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Abnormality of the spleen Left ventricular noncompaction Arnold-Chiari type I malformation Abnormal heart valve morphology Abnormal lung lobation Abnormal intestine morphology Pyloric stenosis Abnormality of vision Delayed gross motor development Scrotal hypoplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Hypercholesterolemia Narrow palpebral fissure Hand polydactyly Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Decreased body weight Patent foramen ovale Self-injurious behavior Foot polydactyly Abnormality of brain morphology Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system High hypermetropia Clitoral hypertrophy Macule Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Expressive language delay Abnormal social behavior Aortic arch aneurysm Asthenia Myoclonus Hyporeflexia Areflexia Respiratory insufficiency Fatigue Skeletal muscle atrophy Peripheral neuropathy Hyperlysinemia Oroticaciduria Hyperlysinuria Abnormality of movement Cystinuria Normochromic anemia Episodic vomiting Short attention span Ectopia lentis Optic nerve hypoplasia Abnormality of the genitourinary system Aciduria Coma Paralysis Paresthesia Vomiting Axonal degeneration Myelin tomacula Segmental peripheral demyelination/remyelination Vocal cord paresis Abnormal myelination Low back pain Constrictive median neuropathy Vocal cord paralysis Hodgkin lymphoma Axonal loss Decreased motor nerve conduction velocity Sensory neuropathy Hammertoe Abnormality of the voice Foot dorsiflexor weakness Hoarse voice Hypotelorism Peripheral demyelination Generalized muscle weakness Muscle cramps Polyneuropathy Intellectual disability, mild Abnormality of the periventricular white matter Annular pancreas Abnormality of the hairline Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Oppositional defiant disorder Abnormality of the cerebral ventricles Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Mitral regurgitation Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Abnormal parietal bone morphology Abnormality of the renal pelvis Brisk reflexes Dyspnea Stridor External ophthalmoplegia Exotropia Progressive neurologic deterioration Increased serum lactate Neurodegeneration Ophthalmoplegia Lethargy Irritability Encephalopathy Solitary renal cyst Spinal muscular atrophy Cerebellar vermis hypoplasia Cerebellar hypoplasia Cerebral visual impairment Spastic tetraplegia Blindness Periventricular gray matter heterotopia Poor eye contact Recurrent infections Agenesis of the anterior commissure Pachygyria Hip dysplasia Hypertrichosis Abnormal lung morphology Broad-based gait Sleep apnea Acanthosis nigricans Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormality of the metaphysis Disproportionate short-limb short stature Abnormal form of the vertebral bodies Recurrent otitis media Osteoarthritis Epidermal acanthosis Overgrowth Otitis media Sleep disturbance Fasciculations Progressive spastic paraplegia Short long bone Tinnitus Joint hyperflexibility Disproportionate short stature Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Urinary incontinence Hip contracture Waddling gait Myeloid leukemia Abnormality of pelvic girdle bone morphology Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Genu varum Micromelia Leukemia Upper airway obstruction Broad nasal tip Drooling Widely spaced teeth Pancreatitis Open mouth Sloping forehead Growth hormone deficiency Round face Full cheeks Tapered finger External genital hypoplasia Thick vermilion border Long face Babinski sign Delayed puberty Severe global developmental delay Diabetes mellitus Attention deficit hyperactivity disorder Hypoglycemia Gait ataxia Agitation Depressed nasal tip Scarring Delayed peripheral myelination Hyperlordosis Apnea Cerebral white matter atrophy Puberty and gonadal disorders Arthralgia Skeletal dysplasia Structural foot deformity Exophoria Severe short stature Abnormality of the musculature of the lower limbs Large earlobe Absent pubertal growth spurt Focal myoclonic seizures Hypertension Motor delay Neoplasm Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Communicating hydrocephalus Dysuria Depressed nasal ridge Hydronephrosis Abnormality of the liver Joint stiffness Abnormality of the pinna Feeding difficulties in infancy Abnormality of the eye Camptodactyly Abnormality of the kidney Low-set, posteriorly rotated ears Neonatal hypotonia Coloboma Mandibular prognathia Hypothyroidism Narrow mouth Hip dislocation Brachycephaly Upslanted palpebral fissure Prominent forehead Posteriorly rotated ears Spastic paraplegia Blepharophimosis Abnormal cardiac septum morphology Constipation Brain atrophy Ventricular hypertrophy Interphalangeal joint contracture of finger Abnormality of the ribs Coarctation of aorta Tetralogy of Fallot Abnormal blistering of the skin Macrotia Abnormality of the skin Intestinal malrotation Bifid uvula Camptodactyly of finger Renal cyst Short foot Hepatic steatosis Cleft upper lip Synophrys Hypermetropia Dilated cardiomyopathy Neurological speech impairment Microtia Agenesis of corpus callosum Clinodactyly of the 5th finger Central apnea Cervical myelopathy Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Central sleep apnea Myelitis Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Spinal stenosis with reduced interpedicular distance Lumbar kyphosis in infancy Delayed skeletal maturation Abnormality of the foot Patent ductus arteriosus Clinodactyly Abnormality of cardiovascular system morphology Generalized tonic-clonic seizures Myopathy Atrial septal defect Cardiomyopathy Anteverted nares Ventricular septal defect Paraplegia Generalized myoclonic seizures Downslanted palpebral fissures Optic atrophy Wide nasal bridge Epicanthus Unsteady gait Retinal dystrophy High palate Low-set ears Cataract Brachial plexus neuropathy



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