Hyperreflexia, and Sparse and thin eyebrow

Diseases related with Hyperreflexia and Sparse and thin eyebrow

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


Top matches:

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Medium match EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME


PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

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Other less relevant matches:

Medium match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Medium match GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE


Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Medium match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Medium match CEREBROFACIOTHORACIC DYSPLASIA


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

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME


Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Sparse and thin eyebrow

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Sparse and thin eyebrow. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Seizures Sparse hair Abnormal facial shape Generalized hypotonia Hearing impairment Hypoplasia of the corpus callosum Hyporeflexia Brachycephaly Upslanted palpebral fissure Alopecia Fine hair Sparse eyelashes Ventriculomegaly Sparse eyebrow Depressed nasal bridge Arthrogryposis multiplex congenita Growth delay Anteverted nares Failure to thrive Feeding difficulties Abnormality of the ribs Neoplasm Short neck Visual impairment Muscular hypotonia Abnormality of the dentition Delayed skeletal maturation Cognitive impairment Pectus carinatum Talipes equinovarus Hypertelorism Optic atrophy Micrognathia Absent speech Protruding ear Narrow forehead Low-set ears Joint hypermobility Abnormality of the skeletal system Strabismus Spasticity Delayed speech and language development High palate Epicanthus Diabetes mellitus Wide nasal bridge

Rare Symptoms - Less than 30% cases


Anxiety Dystonia Short nose Skeletal muscle atrophy Talipes Choreoathetosis Tremor Broad-based gait Hand clenching Ptosis Hypertension Atrial septal defect Blindness Myopia Short palm Elbow flexion contracture Pectus excavatum Neoplasm of the skin Reduced tendon reflexes Squamous cell carcinoma Aplasia/Hypoplasia of the eyebrow Malar flattening Sacral dimple Cerebellar atrophy Hypertonia Encephalopathy Constipation Cerebral cortical atrophy Intellectual disability, mild Behavioral abnormality Joint laxity Long eyelashes Gingival overgrowth Prominent forehead Macrocephaly Cleft palate Midface retrusion Hernia Arrhythmia Inguinal hernia Wide intermamillary distance Heart block Round face Pes planus Highly arched eyebrow Small hand Attention deficit hyperactivity disorder Wide nose Cataract Supernumerary nipple Clinodactyly of the 5th finger Hypogonadism Overlapping toe Peripheral neuropathy Downslanted palpebral fissures Frontal bossing Diarrhea Narrow chest Hypothyroidism Overweight Hypotrichosis Low-set, posteriorly rotated ears Sensory neuropathy Bilateral sensorineural hearing impairment Primary amenorrhea Sparse scalp hair Aganglionic megacolon Joint hyperflexibility Cerebellar hypoplasia Broad columella Pain Prominent nose High hypermetropia Decreased testicular size Triangular face Cryptorchidism Sprengel anomaly Scarring Hypoplasia of the maxilla Carcinoma Thin eyebrow Pes cavus Mandibular prognathia Macrotia Joint stiffness Mild short stature Thin upper lip vermilion Ichthyosis Severe short stature Camptodactyly Craniosynostosis Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Non-Hodgkin lymphoma Biconvex vertebral bodies Sparse facial hair Wide mouth Severe T-cell immunodeficiency Postnatal growth retardation Long fibula Abnormality of the kidney Abnormality of humoral immunity Absent pubertal growth spurt Cleft lip Flaring of lower rib cage Synophrys Thick eyebrow Unsteady gait Intention tremor Vertebral fusion Vertebral segmentation defect Hypoplastic anemia Neurodevelopmental delay Large for gestational age Coarse hair Hemivertebrae Low anterior hairline Abnormal T cell morphology Tall stature Low posterior hairline Narrow vertebral interpedicular distance Cerebellar vermis hypoplasia Decreased fetal movement Abnormality of the distal phalanx of finger Postaxial hand polydactyly Renal agenesis Growth hormone deficiency Vesicoureteral reflux Flat face Oral cleft Cleft upper lip Hydronephrosis Tracheal stenosis Neonatal hypotonia Acanthosis nigricans Short phalanx of finger Camptodactyly of finger Cerebral calcification Stereotypy Hypoplasia of dental enamel Congenital diaphragmatic hernia Abnormality of dental enamel Eczema Abnormality of the fingernails Large hands Short toe Macular dystrophy Underdeveloped nasal alae Short metacarpal External genital hypoplasia Amelogenesis imperfecta Broad nasal tip Sleep disturbance Short foot Thick vermilion border Downturned corners of mouth Pulmonary lymphoma Aortic valve stenosis Polyhydramnios Renal neoplasm Posteriorly rotated ears Patent ductus arteriosus Abnormal bone ossification Motor delay Self-biting Susceptibility to chickenpox Pain insensitivity Abnormal aortic morphology Subvalvular aortic stenosis Broad face Low hanging columella Bilateral single transverse palmar creases Tracheomalacia Obsessive-compulsive behavior Self-injurious behavior Nephroblastoma Pyloric stenosis Short metatarsal Laryngomalacia Narrow palpebral fissure Short chin Multicystic kidney dysplasia Abnormally ossified vertebrae Beaking of vertebral bodies Shawl scrotum Bronchiectasis Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Abnormal palate morphology Accelerated skeletal maturation Hypocalcemia Short ribs Lymphopenia Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bowing of the long bones Portal hypertension Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Blue sclerae Lumbar hyperlordosis Convex nasal ridge Aplasia/Hypoplasia affecting the eye Abnormal toenail morphology Decreased antibody level in blood High anterior hairline Genu varum Metaphyseal widening Metaphyseal chondrodysplasia Aplastic anemia Upper limb undergrowth Thrombocytosis Generalized joint laxity Exocrine pancreatic insufficiency Distal arthrogryposis Abnormal eyelid morphology Esophageal atresia B-cell lymphoma Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Cone-shaped epiphysis Abnormality of the pancreas Macrocytic anemia Metaphyseal dysplasia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Aplasia/Hypoplasia of the abdominal wall musculature Mesomelia Short thorax Pili torti Cellular immunodeficiency Neonatal short-limb short stature Normocytic anemia Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Bifid ribs Mucopolysacchariduria Abnormal nasolacrimal system morphology Exodeviation Poliosis Bull's eye maculopathy Hyperextensibility of the finger joints Hypersplenism Abnormal hair quantity Rib fusion Muscle flaccidity Broad philtrum Conical tooth Rectovaginal fistula Large face Abnormal hair pattern Fair hair Spinal dysraphism Congenital hypoplastic anemia Self-mutilation Abnormality of chromosome stability Taurodontia Leukonychia Hyperlordosis Gastrointestinal hemorrhage Metaphyseal cupping Lymphoma Postural instability Hypopigmentation of the skin Neutropenia Micromelia Malabsorption Leukemia Abnormal cardiac septum morphology EEG abnormality Microdontia of primary teeth Abnormal eyebrow morphology Pneumonia Thrombocytopenia Recurrent infections Dilatation Immunodeficiency Splenomegaly Cardiomyopathy Respiratory insufficiency Hepatomegaly Anemia Skeletal dysplasia Mental deterioration Thin vermilion border Knee flexion contracture Macule Hemiplegia/hemiparesis Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Osteolysis Conjunctivitis Skin ulcer Severe hearing impairment Hypohidrosis Thickened skin Progressive visual loss Nail dysplasia Delayed eruption of teeth Palmoplantar keratoderma Carious teeth Nail dystrophy Severe global developmental delay Erythema Cellulitis Keratoconjunctivitis sicca Photophobia Corneal scarring Neurodegeneration Developmental regression Elevated serum creatine phosphokinase Muscle weakness Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Keratoconjunctivitis Alopecia of scalp Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Furrowed tongue Dystrophic toenail Corneal erosion Abnormal eyelash morphology Arthritis Hyperkeratosis Gliosis Spastic paraplegia Renal hypoplasia Tetralogy of Fallot High, narrow palate Iris coloboma Bulbous nose Long face Arachnodactyly Anal atresia Paraplegia Hypermetropia Short philtrum Situs inversus totalis Coloboma Abnormality of the nervous system Narrow mouth Abnormal heart morphology Hypospadias Cerebral atrophy Microphthalmia Long philtrum Intellectual disability, severe Ventricular septal defect Intrauterine growth retardation Joint contracture of the hand Abnormality of the hair Hyperhidrosis Abnormality of the rib cage Visual loss Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Anteverted ears Heterotaxy Small face Narrow face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Prominent metopic ridge Spastic diplegia Cupped ear Chorioretinal coloboma Failure to thrive in infancy Nasal speech Poor suck Cachexia Tetraplegia Delayed myelination Toe syndactyly Psychosis Autoimmune thrombocytopenia Hypoplasia of the uterus Flat occiput Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Myocardial infarction Abnormality of extrapyramidal motor function Anodontia Dehydration Amenorrhea Dental malocclusion Polyneuropathy Abnormality of movement Delayed puberty Prominent nasal bridge High forehead Micropenis Babinski sign Insulin-resistant diabetes mellitus Decreased serum testosterone level Gait disturbance Hyperactivity Finger syndactyly Blepharophimosis Autistic behavior Feeding difficulties in infancy Aggressive behavior Conductive hearing impairment Deeply set eye Umbilical hernia Coarse facial features Autism Obesity Decreased serum estradiol Abnormality of cardiovascular system morphology Hydrocephalus Brachydactyly Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Abnormality of metabolism/homeostasis Dysarthria Neuronal loss in central nervous system Chronic constipation Inability to walk Dysmetria Distal muscle weakness Kyphoscoliosis Gait ataxia Agenesis of corpus callosum Kyphosis Ataxia Tongue fasciculations Diffuse cerebral atrophy Facial hypotonia Generalized-onset seizure Atrophy/Degeneration affecting the brainstem Cortical gyral simplification Cortical dysplasia CNS hypomyelination Widely spaced teeth Severe muscular hypotonia Fasciculations Postnatal microcephaly Progressive neurologic deterioration Hypsarrhythmia Spastic tetraplegia Dandy-Walker malformation Abnormal autonomic nervous system physiology Nonketotic hyperglycinemia Clonus Fetal distress Hyperglycinemia Exaggerated startle response Genu recurvatum Hip contracture Weak cry Myopathic facies Oral-pharyngeal dysphagia Trigonocephaly Deep philtrum Hip dysplasia Brittle hair Esotropia Abnormality of the foot Dolichocephaly Hip dislocation Broad forehead Apnea Muscular hypotonia of the trunk Retrognathia Respiratory failure Dysphagia Flexion contracture Abnormality of nail color



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