Hyperreflexia, and Smooth philtrum

Diseases related with Hyperreflexia and Smooth philtrum

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

Top matches:

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Other less relevant matches:

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME Is also known as wieacker syndrome|contractures of feet, muscle atrophy, and oculomotor apraxia|foot contractures-muscle atrophy-oculomotor apraxia syndrome|wieacker-wolff syndrome|mrxs4|apraxia, oculomotor, with congenital contractures and muscle atrophy|mcs|miles-carpen

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Smooth philtrum

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Smooth philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Short stature Prominent nasal bridge Feeding difficulties Anteverted nares Nystagmus Thin upper lip vermilion High palate Cerebellar atrophy Growth delay Postnatal growth retardation Aggressive behavior Long philtrum Upslanted palpebral fissure Hyperactivity Flexion contracture Abnormality of the skeletal system Intellectual disability, severe Skeletal muscle atrophy Poor speech Cerebral atrophy Prominent nose Thick eyebrow Camptodactyly Clinodactyly of the 5th finger Short palm Brachycephaly Autism Developmental regression Wide mouth Severe global developmental delay Apraxia Lower limb hyperreflexia Decreased testicular size Hypermetropia Talipes equinovarus Macrocephaly Brachydactyly Cryptorchidism Optic atrophy Prominent forehead Short philtrum Abnormality of the cerebral white matter Hypertonia Bulbous nose Dental malocclusion Babinski sign Postnatal microcephaly Short nose Broad thumb Hypertelorism Downslanted palpebral fissures Wide nasal bridge Triangular face Myopathy Abnormality of the dentition Thin vermilion border Failure to thrive Hearing impairment Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Hepatomegaly Joint laxity Interphalangeal joint contracture of finger Abnormality of the periventricular white matter High, narrow palate Restlessness Hypoplasia of the maxilla Clinodactyly Short columella Broad hallux phalanx Camptodactyly of finger Deeply set eye Mandibular prognathia Hypertension Depressed nasal bridge Ataxia Cognitive impairment Neurodegeneration Ptosis Small hand Splenomegaly Downturned corners of mouth Trigonocephaly Posteriorly rotated ears Broad forehead Muscular hypotonia Drooling Joint hyperflexibility Joint stiffness Delayed myelination Abnormality of the foot Neurological speech impairment Apnea Kyphoscoliosis Dysmetria Intellectual disability, mild Respiratory distress Nail dysplasia Febrile seizures Short palpebral fissure Progressive neurologic deterioration Short neck Dysphagia Motor delay Long eyelashes Anxiety Inguinal hernia Intellectual disability, moderate Abnormal pyramidal sign Flat occiput Self-mutilation Telecanthus Broad-based gait Poor eye contact Small for gestational age Progressive microcephaly Impulsivity Inability to walk Leukodystrophy Brisk reflexes CNS hypomyelination Sparse hair Dysarthria Elevated serum creatine phosphokinase Short attention span Gait ataxia Neonatal hypotonia Edema Happy demeanor Macrotia Gastroesophageal reflux Long face Arachnodactyly Malar flattening Pectus carinatum Underdeveloped nasal alae Constipation Scoliosis Skin rash Prolonged partial thromboplastin time Coarse facial features Short upper lip Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Increased variability in muscle fiber diameter Abnormal myelination Mental deterioration Type I transferrin isoform profile Pontocerebellar atrophy Hypoglycosylation of alpha-dystroglycan Spinal dysraphism Abnormal macular morphology Reduced antithrombin III activity Reduced protein C activity Sensorineural hearing impairment Cataract Visual impairment Ventriculomegaly Hydrocephalus Hepatosplenomegaly Reduced protein S activity Persistent left superior vena cava Expressive language delay Muscular dystrophy Narrow maxilla Conspicuously happy disposition Narrow jaw Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Tremor Recurrent infections Patent ductus arteriosus EEG abnormality Elevated hepatic transaminase Abnormality of the eye Retinopathy Enlarged naris Poor suck Pseudoarthrosis Abnormality of vision Hemangioma Varicocele Venous thrombosis Knee flexion contracture Ichthyosis Truncal ataxia Epididymal cyst Cerebral visual impairment Decreased liver function Congenital pseudoarthrosis of the clavicle Telangiectasia Intention tremor Congenital posterior urethral valve Corneal opacity Increased CSF protein Retinal degeneration Malabsorption Short clavicles Microdontia Otitis media Broad nasal tip Sprengel anomaly Hirsutism Craniosynostosis Coarctation of aorta Lipoma Feeding difficulties in infancy Arthritis Cone-shaped epiphyses of the phalanges of the hand Hydronephrosis Conductive hearing impairment Umbilical hernia Hypoplasia of penis Proportionate short stature Delayed skeletal maturation Clubbing Language impairment Abnormality of the voice Nasal speech Abnormality of the hand Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Low posterior hairline Preauricular pit Generalized hirsutism High pitched voice Short thumb Dacryocystitis Recurrent otitis media Celiac disease Hypothyroidism Abnormal heart morphology Flat face Developmental stagnation Hyperextensibility of the finger joints Abnormality of peripheral nerve conduction Periorbital edema CNS demyelination Broad columella Olivopontocerebellar atrophy Large forehead Hypoplastic vertebral bodies Tethered cord Dysostosis multiplex Broad hallux Coarse hair Stiff neck Abnormality of retinal pigmentation Peripheral demyelination Mucopolysacchariduria Retrocerebellar cyst Hypospadias Enuresis Abnormality of cardiovascular system morphology Dilatation Headache Vomiting Abnormality of the clavicle Atrial septal defect Villous atrophy Speech apraxia Gait disturbance 11 pairs of ribs Intrauterine growth retardation Enlarged joints Neoplasm Rapid neurologic deterioration Urinary glycosaminoglycan excretion Incomprehensible speech Proximal placement of thumb Large beaked nose Paraplegia Intellectual disability, progressive Decreased body weight Tapered finger Short foot Short distal phalanx of finger Falls Spastic paraplegia Progressive spastic paraplegia Protruding ear Micropenis Pectus excavatum Myopia Slender nose Decreased motor nerve conduction velocity Large hands Multiple cafe-au-lait spots Spastic tetraparesis Talipes calcaneovarus Areflexia Kyphosis Dystonia Respiratory insufficiency Peripheral neuropathy Muscle weakness Small forehead Facial hypotonia Low frustration tolerance Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Shuffling gait Distal lower limb amyotrophy Infantile muscular hypotonia Tetraparesis Retrognathia Mutism Synophrys Blepharophimosis Pes cavus Long toe Global brain atrophy Overfolded helix Narrow forehead Eczema Brain atrophy Thick vermilion border Generalized tonic-clonic seizures Abnormality of the pinna Cerebral cortical atrophy Hypoplasia of the corpus callosum Esotropia Hypotelorism Spastic tetraplegia Opisthotonus Hypointensity of cerebral white matter on MRI Inappropriate laughter Cerebral hypomyelination Epileptic spasms Prominent metopic ridge Cerebellar vermis atrophy Stereotypy Narrow face Hypsarrhythmia Generalized-onset seizure Myoclonus Encephalopathy Achilles tendon contracture Thick upper lip vermilion Short chin Hyperkeratosis Pes planus Median cleft palate Ectodermal dysplasia Dental crowding Thin skin Hemiparesis Fine hair Intellectual disability, profound Convex nasal ridge Sleep disturbance Oligodontia Wide nose Talipes Facial asymmetry Attention deficit hyperactivity disorder Osteopenia High forehead Microretrognathia Tented upper lip vermilion Hyperhidrosis Conical tooth Toe clinodactyly Pes valgus Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Narrow nose Relative macrocephaly Abnormality of digit Long nose Myopathic facies Bilateral talipes equinovarus Overlapping toe Abnormality of dental morphology Dermal atrophy Narrow mouth Osteoporosis Facial palsy Peripheral axonal neuropathy Elbow flexion contracture Joint contracture of the hand Exotropia Decreased fetal movement Limitation of joint mobility Distal amyotrophy Abnormality of movement Oculomotor apraxia Abnormality of eye movement Narrow chest Arthrogryposis multiplex congenita Hip dislocation Distal muscle weakness Paralysis Hyperlordosis Narrow palate Cerebral palsy Hernia Spinal deformities Midface retrusion Behavioral abnormality Frontal bossing Cleft palate Congenital foot contractures Palmar hyperkeratosis U-Shaped upper lip vermilion Congenital contracture Broad alveolar ridges High anterior hairline Fetal akinesia sequence Bulbar palsy Rocker bottom foot Neonatal respiratory distress Akinesia Mesocardia


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