Hyperreflexia, and Short philtrum

Diseases related with Hyperreflexia and Short philtrum

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

Top matches:

Spastic paraplegia-47 is an autosomal recessive neurodegenerative 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).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-50 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 Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

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

Other less relevant matches:

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

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

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertonia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases

Wide mouth

Common Symptoms - More than 50% cases

Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases

High palate Neonatal hypotonia Tetraplegia Absent speech Short stature Spastic tetraplegia Strabismus Flexion contracture Wide nasal bridge Open mouth Paraplegia Narrow forehead Facial hypotonia Bulbous nose Prominent nose Hypertelorism Muscular hypotonia of the trunk Spastic paraplegia Hypoplasia of the corpus callosum Abnormal facial shape Ventriculomegaly Talipes equinovarus Babinski sign Febrile seizures Pes planus Talipes Thick vermilion border Muscular hypotonia Cerebral palsy Scoliosis Everted upper lip vermilion Poor speech Delayed speech and language development

Rare Symptoms - Less than 30% cases

Severe global developmental delay Hyperactivity Frontal bossing Prominent nasal tip Highly arched eyebrow Growth delay Narrow mouth Macrocephaly Autism Hypotelorism Kyphosis Thick upper lip vermilion Abnormality of the skeletal system High, narrow palate Failure to thrive Postnatal growth retardation Nystagmus Small for gestational age Long face Narrow face Underdeveloped nasal alae Thick eyebrow Downslanted palpebral fissures Mandibular prognathia Cerebellar atrophy Hydrocephalus Acetabular dysplasia Genu recurvatum Abnormality of the periventricular white matter Drooling Waddling gait Inability to walk Ataxia Motor delay Dystonia Hearing impairment Tremor Dysarthria Tented upper lip vermilion Mask-like facies Low anterior hairline Decreased testicular size Lipodystrophy Intellectual disability, profound Spastic tetraparesis Thin skin Abnormality of retinal pigmentation Increased susceptibility to fractures Recurrent pneumonia Gingival overgrowth Decreased light- and dark-adapted electroretinogram amplitude Abnormality of eye movement Hyperthreoninemia Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Pendular nystagmus Congenital blindness Eye poking Hyperactive deep tendon reflexes Hyperthreoninuria Micrognathia Polyhydramnios Keratoconus Respiratory insufficiency High hypermetropia Proptosis Abnormality of neuronal migration Hemiplegia/hemiparesis Dyspnea Abnormal electroretinogram Cone/cone-rod dystrophy Severe vision loss Gastroesophageal reflux Opisthotonus Nasal speech Joint laxity Abnormal cardiac septum morphology Delayed puberty Abnormal cerebellum morphology Intention tremor Dental crowding Clonus Widely spaced teeth Relative macrocephaly Poor suck Patent foramen ovale Kyphoscoliosis Hallux valgus Thickened calvaria Ankylosis Mild global developmental delay Right ventricular hypertrophy Slender build Left ventricular noncompaction Speech apraxia Perseveration Increased head circumference Aggressive behavior Encephalocele Narrow nasal bridge Absence of subcutaneous fat Shallow orbits Self-mutilation Progeroid facial appearance Premature skin wrinkling Abnormally large globe Upper airway obstruction Dimple chin Narrow nasal ridge Narrow naris Generalized lipodystrophy Congenital generalized lipodystrophy Upslanted palpebral fissure Loss of facial adipose tissue Tented philtrum Narrow nasal tip Abnormality of the forehead Cryptorchidism Myopia Ventricular septal defect Malar flattening Patent ductus arteriosus Cerebellar hypoplasia Exotropia Shyness Cerebellar vermis hypoplasia Myopathy Anxiety Everted lower lip vermilion Dandy-Walker malformation Epileptic encephalopathy Cerebral calcification Long eyelashes Holoprosencephaly Fusion of the left and right thalami Abnormality of the dentition Macrotia Elevated serum creatine phosphokinase Pes cavus Telecanthus Sparse hair Blepharophimosis Prominent nasal bridge Synophrys Smooth philtrum Esotropia EEG abnormality Myoclonus Broad-based gait Adducted thumb Protruding tongue Excessive salivation Pneumonia Abnormality of the cerebral white matter Gliosis Aspiration Intellectual disability, progressive Infantile muscular hypotonia Progressive spasticity Encephalopathy Aspiration pneumonia Pseudobulbar signs Wide nasal ridge Apnea Focal-onset seizure Spastic diplegia Loss of ability to walk Simple febrile seizures Optic atrophy Eczema Progressive microcephaly Pigmentary retinopathy Visual loss Wide nasal base Decreased palmar creases Sensorineural hearing impairment Cataract Visual impairment Hepatomegaly Blindness Dilatation Rod-cone dystrophy Short palpebral fissure Thin upper lip vermilion Photophobia Abnormality of the eye Abnormality of the kidney Retinopathy Hypermetropia Congenital cataract Retinal degeneration Retinal dystrophy Microretrognathia Arthrogryposis multiplex congenita Short chin Long nose Brisk reflexes Achilles tendon contracture Cerebral cortical atrophy Difficulty walking Amblyopia Stereotypy Pointed chin Decreased muscle mass Progressive spastic paraplegia Autistic behavior Overweight Generalized joint laxity Spastic dysarthria Prominent antihelix Ptosis Low-set ears Feeding difficulties Atrial septal defect Brachycephaly Deviated nasal septum


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