Hyperreflexia, and Short palm

Diseases related with Hyperreflexia and Short palm

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

Top matches:

Medium match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

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

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Other less relevant matches:

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

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

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment High palate Low-set ears Generalized hypotonia Brachydactyly Anteverted nares Flexion contracture Microcephaly Depressed nasal bridge Abnormal facial shape Spasticity Feeding difficulties Delayed speech and language development Talipes equinovarus Absent speech Clinodactyly Dental malocclusion High, narrow palate Downslanted palpebral fissures Febrile seizures Hyporeflexia Midface retrusion Macrocephaly Hypertelorism Hypoplasia of the corpus callosum Apnea Tapered finger Long philtrum Bulbous nose Cryptorchidism Growth delay Brachycephaly Cleft palate Hypoplasia of the maxilla Micropenis Thin upper lip vermilion Prominent nasal bridge Smooth philtrum Joint laxity Wide nose Short foot Intellectual disability, progressive Camptodactyly Kyphosis Frontal bossing Scoliosis Hyperhidrosis Ventriculomegaly Small hand Severe global developmental delay Abnormality of the skeletal system Abnormal pyramidal sign Muscular hypotonia Sudden cardiac death

Rare Symptoms - Less than 30% cases

EEG abnormality Respiratory insufficiency Anxiety Broad nasal tip Severe short stature Prominent forehead Syndactyly Short metacarpal Narrow nose Sensorineural hearing impairment Furrowed tongue Hypertension Short phalanx of finger Cardiac arrest Overlapping toe Hyperlordosis Ptosis Falls Broad thumb Oligodontia Dysarthria Narrow mouth Postnatal growth retardation Posteriorly rotated ears Clinodactyly of the 5th finger Attention deficit hyperactivity disorder Hernia Short philtrum Broad forehead Wide nasal bridge Abnormality of the cerebral white matter Thoracic scoliosis Talipes Thin vermilion border Hydrocephalus Nail dysplasia Retrognathia Dolichocephaly Lower limb hyperreflexia Radial deviation of finger Trigonocephaly Restlessness Hearing impairment Ataxia Respiratory distress Intention tremor Autism Motor delay Tremor Aggressive behavior Intellectual disability, moderate Nystagmus Dysmetria Feeding difficulties in infancy Optic atrophy Poor speech Mandibular prognathia Lumbar hyperlordosis Limited elbow extension Pes planus Truncal ataxia Gait ataxia Interphalangeal joint contracture of finger Elevated serum creatine phosphokinase Postnatal microcephaly Decreased testicular size Joint hyperflexibility Acanthosis nigricans Pectus excavatum Knee flexion contracture Cerebral atrophy Clonus Cerebellar atrophy Dental crowding Slender ulna Prominent nipples Prominent antitragus Coarse facial features Epicanthus Hirsutism Cerebellar hypoplasia Polymicrogyria Inability to walk Brain atrophy Peripheral neuropathy Heterotopia Osteopathia striata Lissencephaly Cardiomyopathy Congestive heart failure Abnormal myelination Cerebral cortical atrophy Hypogonadism Recurrent respiratory infections Microphthalmia Dysdiadochokinesis Broad fingertip Muscular hypotonia of the trunk Abnormality of the distal phalanx of finger Peripheral axonal neuropathy Pectus carinatum Congenital cataract Hypoglycosylation of alpha-dystroglycan Abnormal macular morphology Hypergonadotropic hypogonadism Short toe Low posterior hairline Hypogonadotrophic hypogonadism Hypotelorism Growth hormone deficiency Reduced protein C activity Microcornea Polyneuropathy Everted lower lip vermilion Pontocerebellar atrophy Reduced protein S activity Talipes valgus Ulnar deviation of finger Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Reduced antithrombin III activity Cataract Prematurely aged appearance Low-set, posteriorly rotated ears Spastic diplegia Metatarsus adductus Bilateral cryptorchidism Epiphyseal dysplasia Abnormality of the hand Abnormal dermatoglyphics Type I transferrin isoform profile Encephalopathy Ventricular tachycardia Global brain atrophy Renal insufficiency Limitation of joint mobility Full cheeks Highly arched eyebrow Carious teeth Blepharophimosis Irritability Facial palsy Kyphoscoliosis Polyhydramnios Dyspnea Short nose Underdeveloped nasal alae Hypertonia Short neck Fever Pain Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Round face Cyanosis Short mandibular rami Trismus Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Large face Central apnea Malignant hyperthermia Dehydration Episodic fever Acute kidney injury Opisthotonus Disproportionate tall stature Keratitis Nasal speech Adducted thumb Elbow flexion contracture Hypohidrosis Recurrent urinary tract infections Generalized-onset seizure Periodic hypokalemic paresis Short digit Cortical dysplasia Mutism Limb muscle weakness Toe syndactyly Dilated cardiomyopathy Arrhythmia Depressivity Broad jaw Subglottic stenosis Hydrocele testis Atonic seizures CNS hypomyelination Bicuspid aortic valve Syncope Horizontal nystagmus Aortic valve stenosis Macroglossia Wide mouth Umbilical hernia Myoclonus Areflexia Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate nucleus Abnormality of the neck Thoracic kyphosis Triangular face Specific learning disability Clinodactyly of the 5th toe Prolonged QT interval First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Short finger Right bundle branch block Palpitations 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Reduced tendon reflexes Abnormal palate morphology Deep venous thrombosis Scapular winging Bilateral single transverse palmar creases Hypoplasia of dental enamel Prolonged partial thromboplastin time Abnormality of the periventricular white matter Upper limb undergrowth Alopecia areata Autistic behavior Proptosis Ventricular septal defect Dysphagia Talipes calcaneovarus Small forehead Low frustration tolerance Lower limb hypertonia Diastema Abnormal cardiac septum morphology Shuffling gait Distal lower limb amyotrophy Facial hypotonia Multiple cafe-au-lait spots Progressive spastic paraplegia Large hands Decreased body weight Short distal phalanx of finger Craniosynostosis Hypopigmentation of the skin Hypermetropia Hypermelanotic macule Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypopigmentation of hair Tarsal synostosis Broad hallux Bilateral sensorineural hearing impairment Short middle phalanx of finger Tracheoesophageal fistula Cone-shaped epiphysis Increased intracranial pressure Hypopigmented skin patches Plagiocephaly Low anterior hairline Bradycardia Epidermal acanthosis Paraplegia Spastic paraplegia Anterior plagiocephaly Abnormality of the metaphysis Abnormality of pelvic girdle bone morphology Genu varum Short long bone Disproportionate short-limb short stature Wormian bones Rhizomelia Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the ribs Chronic otitis media Limb undergrowth Micromelia Narrow chest Neurological speech impairment Joint stiffness Conductive hearing impairment Obesity Intrauterine growth retardation Elbow dislocation Flared metaphysis Camptodactyly of finger Childhood onset short-limb short stature Protruding ear Deeply set eye Macrotia Upslanted palpebral fissure Babinski sign Myopia Acromelia Abnormality of the ilium Narrow sacroiliac notch Mesomelia Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Abnormality of the elbow Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Oxycephaly Abnormality of the head Ankle contracture Happy demeanor Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Pes valgus Hepatomegaly Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Failure to thrive Edema Long nose Decreased liver function Weak cry Increased variability in muscle fiber diameter Flat occiput Poor suck Abnormality of vision Hemangioma Venous thrombosis Cerebral visual impairment Telangiectasia Myopathy Progressive neurologic deterioration Delayed myelination Muscular dystrophy Retinopathy Abnormality of the eye Elevated hepatic transaminase Patent ductus arteriosus Recurrent infections Splenomegaly Abnormality of digit Myopathic facies Lambdoidal craniosynostosis Thimble-shaped middle phalanges of hand Sparse hair Osteopenia High forehead Hyperactivity Osteoporosis Inguinal hernia Behavioral abnormality Abnormality of the dentition Low-frequency sensorineural hearing impairment Facial asymmetry Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Abnormality of the foot Arachnodactyly Bilateral talipes equinovarus Thin skin Abnormality of dental morphology Dermal atrophy Relative macrocephaly Tented upper lip vermilion Drooling Microretrognathia Long eyelashes Broad-based gait Hemiparesis Long face Short palpebral fissure Fine hair Intellectual disability, profound Convex nasal ridge Prominent nose Ectodermal dysplasia Sleep disturbance Downturned corners of mouth Thick eyebrow Cold-induced sweating


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypoplasia of the maxilla, related diseases and genetic alterations Abnormality of the skeletal system and Apraxia, related diseases and genetic alterations