Hyperreflexia, and Low posterior hairline

Diseases related with Hyperreflexia and Low posterior hairline

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

Top matches:

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

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

Other less relevant matches:

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

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

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

Top 5 symptoms//phenotypes associated to Hyperreflexia and Low posterior hairline

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

Other less frequent symptoms

Patients with Hyperreflexia and Low posterior hairline. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Low anterior hairline Mandibular prognathia Downslanted palpebral fissures Low-set ears Cataract Muscular hypotonia of the trunk Postnatal growth retardation Strabismus Cryptorchidism Abnormal facial shape Pes planus Short stature Thin upper lip vermilion Cerebral cortical atrophy Cerebellar vermis hypoplasia Hypoplasia of the corpus callosum Muscular hypotonia Short nose Motor delay Epicanthus Posteriorly rotated ears Hypertelorism Congenital cataract Wide nasal bridge Hypoplasia of the maxilla Abnormality of the skeletal system Pectus excavatum Upslanted palpebral fissure Brachycephaly Polyhydramnios Cerebral atrophy Gastroesophageal reflux Joint laxity Hearing impairment Atrial septal defect Intellectual disability, moderate Ptosis Feeding difficulties in infancy Abnormality of the kidney Nystagmus Short philtrum Visual impairment Talipes Clinodactyly of the 5th finger Long eyelashes Hyperactivity Abnormality of the hand Microphthalmia Delayed speech and language development Narrow forehead Thick eyebrow Hypermetropia Hirsutism Synophrys Clinodactyly Apraxia Deeply set eye Absent speech Flexion contracture Scoliosis Anteverted nares Optic atrophy Intellectual disability, severe Ventriculomegaly Unsteady gait Tremor

Rare Symptoms - Less than 30% cases

Self-mutilation Kyphoscoliosis Neurological speech impairment Gait ataxia Anxiety Camptodactyly of finger Aggressive behavior Wide mouth Craniosynostosis Cleft lip Hypothyroidism Abnormality of the pinna Constipation Neonatal hypotonia Delayed skeletal maturation Downturned corners of mouth Inguinal hernia Abnormal heart morphology Hypospadias Dilatation Intellectual disability, mild Abnormality of the dentition Short neck Feeding difficulties Broad distal phalanx of finger Poor speech Interphalangeal joint contracture of finger Prominent nose Shawl scrotum Pulmonic stenosis Brachydactyly Behavioral abnormality Joint hypermobility Ventricular septal defect Dysphagia Highly arched eyebrow Dental crowding Exotropia Wide anterior fontanel Narrow palate Short upper lip Tethered cord Dental malocclusion Hyperextensibility of the finger joints Speech apraxia Short attention span Sprengel anomaly Hyperactive deep tendon reflexes Attention deficit hyperactivity disorder Impulsivity Broad thumb Coloboma Coarctation of aorta Abnormal cardiac septum morphology High, narrow palate Otitis media Patent ductus arteriosus Hydronephrosis Dysarthria Microcornea Cerebellar hypoplasia Macrotia Poor head control Short phalanx of finger Postnatal microcephaly Growth hormone deficiency Depressed nasal bridge Peripheral neuropathy Talipes equinovarus Broad nasal tip Long philtrum Syndactyly Midface retrusion Everted lower lip vermilion Hyporeflexia Polymicrogyria Peripheral axonal neuropathy Hypogonadism Micropenis Hypertension Low-set, posteriorly rotated ears Pectus carinatum Encephalopathy Abnormality of finger Spastic diplegia Neoplasm Broad fingertip Ataxia Cerebellar atrophy Cognitive impairment Spasticity Coarse hair Generalized myoclonic seizures Enlarged tonsils Large for gestational age Deviated nasal septum Talon cusp Tetraplegia Overlapping toe Supernumerary nipple Decreased testicular size Neurodevelopmental delay Vertebral segmentation defect Vertebral fusion Abnormal hair pattern Beaking of vertebral bodies Broad philtrum Bull's eye maculopathy Hyperacusis Vascular ring Rib fusion Bifid uterus Agoraphobia Aplasia of the 1st metacarpal High axial triradius Large foramen magnum Conical tooth Narrow maxilla Blepharophimosis Premature thelarche Rectovaginal fistula Papillary cystadenoma of the epididymis Sacral dimple Abnormal number of teeth Cleft upper lip Renal agenesis Wide intermamillary distance Vesicoureteral reflux Wide nose Flat face Oral cleft Ankle clonus External genital hypoplasia Macrocephaly Labial hypoplasia Narrow chest Clitoral hypoplasia Hypoplastic labia minora Shallow anterior chamber Postaxial hand polydactyly Decreased fetal movement Hernia Tall stature Spastic tetraplegia Sparse eyelashes Hemivertebrae Sparse and thin eyebrow Radial deviation of thumb terminal phalanx Gingival overgrowth Intention tremor Cortical dysplasia Intellectual disability, profound Plantar crease between first and second toes Cleft palate Hypertrichosis Exodeviation Abnormality of the ribs Scrotal hypoplasia Poliosis Rod-cone dystrophy Bifid ribs Broad forehead Hand clenching Frontal cortical atrophy Kyphosis Interrupted aortic arch Delayed CNS myelination Recurrent infections High forehead Widow's peak Prominent metopic ridge Truncal titubation Poor eye contact Facial asymmetry Prominent occiput Global brain atrophy Aplasia/Hypoplasia of the corpus callosum Thick lower lip vermilion Short distal phalanx of finger Dandy-Walker malformation Dyscalculia Reduced visual acuity Thick vermilion border Mask-like facies Limb ataxia Involuntary movements Slurred speech Abnormal cerebellum morphology Bilateral ptosis Postural tremor Hypopigmentation of the skin Abnormality of movement Brisk reflexes Craniofacial asymmetry Aniridia Hypoplasia of the iris Hearing abnormality Corneal opacity Hypoplasia of the fovea Titubation Abnormality of the pulmonary artery Scanning speech Brain atrophy Tapered finger Microdontia of primary teeth Retinopathy Abnormal electroretinogram Cone/cone-rod dystrophy Abnormality of retinal pigmentation Encephalocele Pigmentary retinopathy Retinal dystrophy Retinal degeneration Ventricular extrasystoles Abnormality of the eye Absent radius Photophobia Mild global developmental delay Coarse facial features Visual loss Blindness Hepatomegaly Sensorineural hearing impairment Obsessive-compulsive trait Hemiplegia/hemiparesis Abnormality of neuronal migration Sepsis Eye poking Hypodontia Syncope Obsessive-compulsive behavior Camptodactyly Prominent forehead 2-3 toe syndactyly Hyperthreoninemia Hyperthreoninuria Fundus atrophy High hypermetropia Talipes equinovalgus Aplasia/Hypoplasia of the cerebellar vermis Abnormality of the optic disc Decreased light- and dark-adapted electroretinogram amplitude Pendular nystagmus Severe vision loss Congenital blindness Keratoconus Duplication of phalanx of hallux Arrhythmia Chorioretinal dystrophy Abnormality of cardiovascular system morphology Prominent nasal bridge Joint stiffness Telecanthus Arthritis Conductive hearing impairment Umbilical hernia Babinski sign Headache Malabsorption Vomiting Gait disturbance Intrauterine growth retardation Slender ulna Prominent nipples Prominent antitragus Osteopathia striata Abnormality of the distal phalanx of finger Small for gestational age Joint hyperflexibility Furrowed tongue Short thumb Language impairment Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Generalized hirsutism Recurrent otitis media Smooth philtrum Short palpebral fissure Hypoplasia of penis Microdontia Underdeveloped nasal alae Triangular face Small hand Bulbous nose Thin vermilion border Talipes valgus Misalignment of teeth Preauricular pit Thick hair Abnormal pyramidal sign Hyperlordosis Severe short stature Recurrent respiratory infections Malar flattening Congestive heart failure Cardiomyopathy Anteverted ears Mild microcephaly Short palm Oculomotor apraxia Narrow palpebral fissure Epileptic encephalopathy Inability to walk Dysmetria Sparse hair Dystonia Hypertonia Severe global developmental delay Polyneuropathy Abnormal toenail morphology Abnormal dermatoglyphics Abnormality of the antihelix Tracheomalacia Thoracic scoliosis Ulnar deviation of finger Prematurely aged appearance Metatarsus adductus Bilateral cryptorchidism Epiphyseal dysplasia Intellectual disability, progressive Short metacarpal Knee flexion contracture Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cardiac arrest Clonus Short toe Lumbar hyperlordosis Hypotelorism Clubbing High pitched voice Keloids Delayed cranial suture closure Patellar dislocation Poor coordination Overweight Neuroblastoma Dislocated radial head Neurofibromas Congenital glaucoma Truncal obesity Broad hallux Capillary hemangioma Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Cafe-au-lait spot Stereotypy Hypoplasia of dental enamel Aganglionic megacolon Obstructive sleep apnea Low hanging columella Convex nasal ridge Rhabdomyosarcoma Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Parietal foramina Abnormality of the cervical spine Facial grimacing Phonophobia Nasolacrimal duct obstruction Hypoplastic iliac wing Abnormal cornea morphology Medulloblastoma Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Mitral regurgitation Recurrent fractures Celiac disease Enlarged joints Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Spinal dysraphism Stiff neck Broad columella 11 pairs of ribs Epididymal cyst Villous atrophy Enuresis Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Short clavicles Proportionate short stature Congenital posterior urethral valve Enlarged naris Single transverse palmar crease Polydactyly Iris coloboma Leukemia Respiratory tract infection EEG abnormality Retrognathia Proptosis Autism Narrow mouth Glaucoma Curved fingers Agenesis of corpus callosum Immunodeficiency Respiratory distress Frontal bossing Failure to thrive Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Frontoparietal polymicrogyria


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