Hypertelorism, and Spastic paraplegia

Diseases related with Hypertelorism and Spastic paraplegia

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

Top matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

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

Other less relevant matches:

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Hypertelorism and Spastic paraplegia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Paraplegia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Spastic paraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Anteverted nares Brachydactyly Hearing impairment Short stature Global developmental delay Clinodactyly Hyperreflexia Agenesis of corpus callosum Cryptorchidism Wide nasal bridge Flexion contracture Intellectual disability, severe Hypertonia Failure to thrive Spastic diplegia Cleft palate Talipes equinovarus Dysarthria Abnormality of the skeletal system Ataxia Sensorineural hearing impairment Optic atrophy Thick vermilion border Abnormality of the foot Low-set ears Hypoplasia of the corpus callosum Constipation Cerebral cortical atrophy Midface retrusion Strabismus Muscular hypotonia of the trunk Flat face Growth delay Myopia Camptodactyly Atrial septal defect Coarse facial features Motor delay Babinski sign Short nose Vomiting High palate Telecanthus Ptosis Upslanted palpebral fissure Thin upper lip vermilion Clinodactyly of the 5th finger Micrognathia Tetraparesis

Rare Symptoms - Less than 30% cases

Pectus excavatum Abnormality of the dentition Behavioral abnormality Syndactyly Blindness Mandibular prognathia Joint contracture of the hand Aganglionic megacolon Underdeveloped nasal alae Micropenis Camptodactyly of finger Blepharophimosis Thick lower lip vermilion Gastroesophageal reflux Overgrowth Polydactyly Abnormality of cardiovascular system morphology High forehead Cataract Abnormal facial shape Narrow forehead Infantile muscular hypotonia Premature loss of teeth Drooling Spastic paraparesis Spastic gait Nystagmus Hydronephrosis Genu valgum Kyphoscoliosis Dysphagia Frontal bossing Downslanted palpebral fissures Cognitive impairment Muscle weakness U-Shaped upper lip vermilion Encephalitis Tented upper lip vermilion Macroglossia Abnormality of the kidney Anemia Posteriorly rotated ears Spastic tetraplegia Prominent nose Hip dislocation Unsteady gait Deeply set eye Hydrocephalus Neonatal hypotonia Wide mouth Short neck Difficulty walking Cerebral atrophy Dystonia Delayed speech and language development Muscular hypotonia Broad-based gait Obesity Lower limb spasticity Joint stiffness Facial hypotonia Bilateral cryptorchidism Progressive spastic paraplegia Dolichocephaly Widely spaced teeth Narrow nasal ridge Microtia Pes planus Hyperactivity Nail dystrophy Hypogonadism Short middle phalanx of the 5th finger Pneumonia Delayed skeletal maturation Dry hair Scrotal hypoplasia Abnormal diaphysis morphology Vesicoureteral reflux Thick eyebrow Increased body weight Open mouth Exotropia Narrow face Renal hypoplasia Trichorrhexis nodosa Broad columella Malar flattening Tapered finger Selective tooth agenesis Pseudohypoparathyroidism Decreased testicular size Intellectual disability, progressive Premature loss of primary teeth Abnormality of the genital system Hypospadias Narrow nasal bridge Vertebral hyperostosis Thin vermilion border Pachygyria Omphalocele Decreased fetal movement Aplasia/Hypoplasia of the middle phalanges of the hand Abnormality of the cardiovascular system Delayed eruption of teeth Single transverse palmar crease Nephropathy Wide nose Postnatal growth retardation Lissencephaly EEG abnormality Optic nerve dysplasia Hyperintensity of cerebral white matter on MRI 3-4 toe syndactyly Tooth abscess Abnormality iris morphology Polyhydramnios 4-5 finger syndactyly Brachycephaly Heterotopia Sacral dimple Depressed nasal bridge Agyria Bitemporal hollowing Radial deviation of finger Type I lissencephaly Progressive spastic paraparesis Abnormality of upper lip Pelvic kidney Broad alveolar ridges Madelung deformity Decerebrate rigidity Recurrent aspiration pneumonia Joint contracture of the 5th finger Cavum septum pellucidum Deep palmar crease Thick upper lip vermilion Duodenal atresia Premature skin wrinkling Infantile spasms Cranial hyperostosis Prominent occiput Abnormality of neuronal migration Deep philtrum Midline brain calcifications Protruding tongue Mild short stature Microdontia Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palpebral fissure Fine hair Hypotelorism Cerebral calcification Microcornea Abnormality of the nail Palmoplantar keratoderma Cleft upper lip Paresthesia Toe syndactyly Hyperactive deep tendon reflexes External ear malformation Median cleft lip Narrow nose Lymphedema Paraparesis Abnormality of the clavicle Cubitus valgus Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly High hypermetropia Metaphyseal dysplasia Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Hand polydactyly Abnormality of dental enamel Curly hair Brittle hair Preaxial polydactyly Bilateral ptosis Reduced number of teeth Abnormality of vision Spastic tetraparesis Abnormality of the fingernails Hypoparathyroidism Taurodontia External genital hypoplasia Short upper lip Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Mild global developmental delay Bilateral renal hypoplasia Short hallux Abnormal cortical bone morphology Overjet Abnormality of the nose Neurogenic bladder Lower limb hypertonia Asplenia Progressive spasticity Abnormality of blood and blood-forming tissues Slow-growing hair Slender finger Paroxysmal bursts of laughter Triangular nasal tip Carious teeth Abnormality of the nervous system Fragile nails Hypotrichosis Abnormality of the cerebral white matter Low hanging columella Sparse hair Abnormality of the pinna Abnormality of the eye Retinal dysplasia Conductive hearing impairment Visual impairment Hypoglycemia Umbilical hernia Glaucoma Arrhythmia Visual loss Microphthalmia Edema Ventricular septal defect Gait disturbance Finger syndactyly Joint hypermobility Prominent forehead Severe global developmental delay Trigonocephaly Progressive neurologic deterioration Increased serum lactate Coma Metabolic acidosis Hemolytic anemia Lactic acidosis Abnormality of eye movement Acidosis Difficulty running Dilatation Respiratory distress Respiratory insufficiency Ventriculomegaly Focal myoclonic seizures Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Partial agenesis of the corpus callosum Lipoma Structural foot deformity Poor gross motor coordination Anorexia Abdominal distention Hypopigmentation of the skin Abnormality of skin pigmentation Synophrys Arthrogryposis multiplex congenita Prominent nasal bridge Cleft lip Projectile vomiting Poor coordination Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Poor fine motor coordination Severe lactic acidosis Corpus callosum atrophy Exophoria Puberty and gonadal disorders Hypopigmented skin patches Visceromegaly Bulbous nose Talipes Short philtrum Apnea Absent speech Flexion contracture of thumb Esodeviation Oxycephaly Aqueductal stenosis Tetraplegia Absent septum pellucidum Hemiplegia/hemiparesis Adducted thumb Increased intracranial pressure Holoprosencephaly Small hand Retrognathia Hyporeflexia Highly arched eyebrow Focal-onset seizure Cerebral white matter atrophy Retinal dystrophy Overweight Fasciculations Lumbar hyperlordosis Waddling gait Urinary incontinence Delayed myelination Generalized myoclonic seizures Downturned corners of mouth Inability to walk Febrile seizures Generalized tonic-clonic seizures Developmental regression Kyphosis Macrocephaly Scoliosis Simple febrile seizures Loss of ability to walk Cerebral palsy Scapular winging Congenital sensorineural hearing impairment Inguinal hernia Slurred speech Ankle contracture Cerebellar vermis atrophy Scleroderma Ankle clonus Hammertoe Impaired vibratory sensation Emotional lability Abnormality of the hand Hoarse voice Dysuria Clonus Hallucinations Progressive muscle weakness Choreoathetosis Psychosis Specific learning disability Gliosis Abnormal cerebellum morphology Upper limb muscle weakness Abnormality of the thumb Short foot Narrow jaw Abnormal heart morphology Abnormality of metabolism/homeostasis Intrauterine growth retardation Neoplasm Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Panic attack Spastic dysarthria Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Sleep disturbance Distal amyotrophy Albinism White forelock Feeding difficulties in infancy Autism Depressivity Poliosis Dacryocystitis Partial albinism Narrow naris Bronchomalacia Atelectasis Abnormality of movement White hair Heterochromia iridis Blue irides Carpal synostosis Vitiligo Sprengel anomaly Cutaneous finger syndactyly Premature graying of hair Nausea and vomiting Everted lower lip vermilion Dysmetria Abnormality of fontanelles Lower limb muscle weakness Anxiety Gait ataxia Pes cavus Intellectual disability, mild Cerebellar atrophy Skeletal muscle atrophy Abnormality of the male genitalia Abnormal hemoglobin Ambiguous genitalia Profound global developmental delay Volvulus Male pseudohermaphroditism Dysphasia Self-injurious behavior Abnormality of the face Recurrent urinary tract infections Depressed nasal ridge Hypoplasia of penis Thin anteverted nares


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