Hyperreflexia, and Finger syndactyly

Diseases related with Hyperreflexia and Finger syndactyly

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

Top matches:

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by Alaimo et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

Other less relevant matches:

Low match SLC39A8-CDG

Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).For a discussion of genetic heterogeneity of CDG type II, see CDG2A (OMIM ).

SLC39A8-CDG Is also known as slc39a8 deficiency|cdg2n|congenital disorder of glycosylation type 2n|cdg iin|cdg syndrome type iin|carbohydrate deficient glycoprotein syndrome type iin|cdgiin|cdg-iin|congenital disorder of glycosylation type iin

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC39A8-CDG

The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

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

Low match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low 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

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Top 5 symptoms//phenotypes associated to Hyperreflexia and Finger syndactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Visual impairment Upslanted palpebral fissure Short stature Hearing impairment Strabismus Clinodactyly Epicanthus Nystagmus Spasticity Hypertelorism Facial asymmetry Ataxia Ptosis Microcephaly Micrognathia Muscle weakness Cleft palate Frontal bossing Toe syndactyly Abnormality of the cerebral white matter Brachydactyly High palate Microphthalmia Abnormal cardiac septum morphology Abnormality of the nervous system Abnormality of the eye Abnormality of vision Blindness Cognitive impairment Low-set ears Generalized hypotonia Deeply set eye Short nose Fatigue Respiratory distress Hypopigmentation of the skin Flexion contracture Ventriculomegaly Abnormality of finger

Rare Symptoms - Less than 30% cases

Dental crowding Motor delay Progressive spasticity Low anterior hairline Aplasia/Hypoplasia of the cerebellum Peripheral neuropathy Hand polydactyly Absent radius Hepatomegaly Irregular hyperpigmentation Cerebral calcification Hypotelorism Short palpebral fissure Neoplasm Hypoplasia of the corpus callosum Spastic paraparesis Abnormal facial shape Growth delay Delayed speech and language development External ear malformation Feeding difficulties Recurrent infections Severe short stature Osteopenia Ichthyosis Apnea Craniosynostosis Abnormality of the liver Poor speech Respiratory insufficiency Astigmatism Axonal degeneration Attention deficit hyperactivity disorder Hemimegalencephaly Plagiocephaly Paralysis Downslanted palpebral fissures Dysphagia Neurogenic bladder Scoliosis Mild global developmental delay Pes planus Taurodontia Overgrowth Paraparesis Hydrocephalus Visual loss Inability to walk Hypopigmented skin patches Umbilical hernia High forehead Proptosis Clinodactyly of the 5th finger Carcinoma Horseshoe kidney Blepharophimosis Abnormality of cardiovascular system morphology Cataract Edema Atrial septal defect Anteverted nares Ventricular septal defect Gait disturbance Optic atrophy Hypermetropia Narrow palpebral fissure Paresthesia Hip dislocation Absent speech Paraplegia Tracheoesophageal fistula Mandibular prognathia Muscular hypotonia of the trunk Spastic paraplegia Cerebellar atrophy Sparse hair Flat face Absent testis Abnormal carotid artery morphology Prominent forehead Anemic pallor Decreased fertility in males Prolonged G2 phase of cell cycle Chromosomal breakage induced by crosslinking agents Almond-shaped palpebral fissure Azoospermia Aganglionic megacolon Hypoplastic anemia Abnormality of the genital system Deficient excision of UV-induced pyrimidine dimers in DNA Compensated hypothyroidism Leukopenia Hypertension Type I diabetes mellitus Neoplasm of head and neck Abnormal vertebral morphology Sensorineural hearing impairment Abnormality of the preputium Telangiectasia Cafe-au-lait spot Malar flattening Short thumb Insulin resistance Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of the uvula Partial duplication of thumb phalanx Spina bifida Aplasia/Hypoplasia of fingers Hypergonadotropic hypogonadism Bone marrow hypocellularity Recurrent urinary tract infections Macrocephaly Midface retrusion Clubbing of toes Abnormal aortic morphology Complete duplication of thumb phalanx Myelodysplasia Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Reduced bone mineral density Hearing abnormality Abnormality of the urinary system Hyperinsulinemia Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia B-cell lymphoma Triphalangeal thumb Anxiety Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Glucose intolerance Hydroureter Ectopic kidney Hypoplasia of the ulna Arteriovenous malformation Abnormality of the upper limb Aplasia/Hypoplasia of the iris Abnormal localization of kidney Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Squamous cell carcinoma Reticulocytopenia Abnormality of chromosome stability Abnormal renal morphology Aplastic anemia Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Cranial nerve paralysis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Renal hypoplasia/aplasia Abnormality of the uterus Brachycephaly Anterior plagiocephaly Autistic behavior Genu recurvatum Epidermal nevus Cranial asymmetry Abnormality of dental color Adenoma sebaceum Asymmetric growth Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Hemihypertrophy Gangrene Dilatation of the cerebral artery Abnormality of toe Osteomalacia Biparietal narrowing Neurofibromas Basal cell carcinoma Vertebral segmentation defect Prominent occiput Abnormality of dental morphology Melanocytic nevus Rickets Precocious puberty Hemangioma Nevus sebaceous Odontoma Reduced tendon reflexes Sensory impairment Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Weak voice Dysesthesia Chronic pain Facial paralysis Scapular winging Narrow face Hoarse voice Bifid uvula Odontogenic neoplasm Postural instability Myalgia Rigidity Narrow mouth Hyperhidrosis Hyporeflexia Depressivity Skeletal muscle atrophy Depressed nasal bridge Pain Nevus sebaceus Linear nevus sebaceous Aplasia/Hypoplasia of the corpus callosum Exotropia Short palm Broad hallux Pancytopenia Oxycephaly 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 Hypermelanotic macule Short middle phalanx of finger Lambdoidal craniosynostosis Radial deviation of finger Cone-shaped epiphysis Trigonocephaly Increased intracranial pressure Acanthosis nigricans Bradycardia Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Dental malocclusion Short foot High, narrow palate Abnormality of the head Parietal foramina Pachygyria EEG abnormality Coarctation of aorta Dandy-Walker malformation Nevus Generalized muscle weakness Recurrent fractures Iris coloboma Talipes Ophthalmoplegia Corneal opacity Coloboma Telecanthus Kyphoscoliosis Craniofacial asymmetry Agenesis of corpus callosum Alopecia Dilatation Talipes equinovarus Muscular hypotonia Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Choanal atresia Thick eyebrow Oligohydramnios Low hanging columella Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Slow-growing hair Abnormality of the nose Abnormal cortical bone morphology Short hallux Retinal dysplasia Fragile nails Premature loss of primary teeth Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Pseudohypoparathyroidism Abnormal diaphysis morphology Abnormality of the ear 4-5 finger syndactyly Short 4th metacarpal Recurrent lower respiratory tract infections Abnormality of the periventricular white matter Abnormality of mitochondrial metabolism Leukodystrophy Developmental regression Joint laxity Respiratory failure Thin anteverted nares Vertebral hyperostosis Abnormality iris morphology Narrow nasal ridge Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal bridge Non-midline cleft lip Cerebral atrophy Mild microcephaly Conductive hearing impairment Hypoglycemia Polydactyly Glaucoma Arrhythmia Abnormality of the dentition Myopia Dysarthria Anteverted ears Thick hair Poor head control Abnormality of the pinna Oculomotor apraxia Low posterior hairline Apraxia Epileptic encephalopathy Hirsutism Dysmetria Cerebellar hypoplasia Encephalopathy Dystonia Hypertonia Camptodactyly Camptodactyly of finger Hyperostosis Lymphedema Preaxial hand polydactyly Cubitus valgus Brittle hair Preaxial polydactyly Bilateral ptosis Reduced number of teeth Spastic tetraparesis Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Hypoplasia of dental enamel Hypotrichosis Abnormality of the metaphysis Abnormal form of the vertebral bodies Tetraparesis Fine hair Microdontia Underdeveloped nasal alae Microcornea Palmoplantar keratoderma Cleft upper lip Carious teeth Vegetative state Cerebral cortical atrophy Sloping forehead 2-3 toe syndactyly Congestive heart failure Intrauterine growth retardation Fever Anemia Cryptorchidism Failure to thrive Aplasia of the 1st metacarpal Hyperacusis Obsessive-compulsive trait Ventricular extrasystoles Obsessive-compulsive behavior Headache Abnormality of the hand Short phalanx of finger Syncope Hypodontia Tapered finger Thick vermilion border Short distal phalanx of finger Synophrys Broad forehead Aggressive behavior Renal insufficiency Thrombocytopenia Macrotia Small for gestational age Tetralogy of Fallot Renal agenesis Lymphoma Neutropenia Bruising susceptibility Abnormality of skin pigmentation Vertigo Anal atresia Abnormality of the foot Dolichocephaly Leukemia Hypospadias Postnatal growth retardation Irritability Abnormality of the kidney Hypertrophic cardiomyopathy Hypothyroidism Weight loss Diabetes mellitus Hypogonadism Abnormal heart morphology Patent ductus arteriosus Thin upper lip vermilion Gait ataxia Joint hypermobility Pneumonia Peripheral axonal neuropathy Confusion Lower limb muscle weakness Infertility Limb muscle weakness Nyctalopia Retinopathy Dementia Rod-cone dystrophy Pes cavus Constipation Polyneuropathy Babinski sign Obesity Intellectual disability, mild Tremor Hypopnea Cutaneous syndactyly Knee flexion contracture Hypsarrhythmia Intellectual disability, profound Limb undergrowth Sensory neuropathy Tetraplegia Hyperactivity Impaired vibration sensation in the lower limbs Pectus excavatum Long philtrum Kyphosis Behavioral abnormality Long-tract signs Degeneration of the lateral corticospinal tracts Distal lower limb amyotrophy Urinary bladder sphincter dysfunction Poor coordination Optic neuropathy Urinary urgency Urinary incontinence Impaired vibratory sensation Postural tremor Growth abnormality Cerebral palsy Increased body weight Clonus Spastic gait Decreased liver function Lower limb spasticity Clumsiness Spastic tetraplegia Brachial plexus neuropathy


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