Hyperreflexia, and Nail dysplasia

Diseases related with Hyperreflexia and Nail dysplasia

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

Top matches:

Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Low match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

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

Low 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

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Low match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

Low 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

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Nail dysplasia

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
Microcephaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Nail dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Nail dystrophy Flexion contracture Delayed speech and language development Intellectual disability, severe Strabismus Peripheral neuropathy Sensorineural hearing impairment Downslanted palpebral fissures Wide nasal bridge Bulbous nose Severe global developmental delay Optic atrophy Abnormality of vision Abnormality of the eye Feeding difficulties Fine hair Ichthyosis Pain Cerebral atrophy Absent speech Hypertelorism Blindness Febrile seizures Visual impairment Sparse hair Hyperkeratosis Hyporeflexia Pes cavus Recurrent infections High palate Cataract Hyperhidrosis Knee flexion contracture Short stature Nystagmus Growth delay Small nail

Rare Symptoms - Less than 30% cases

Keratoconjunctivitis sicca Corneal ulceration Dry skin Corneal scarring Photophobia Keratitis Telangiectasia Squamous cell carcinoma Self-mutilation Recurrent corneal erosions Decreased antibody level in blood Corneal neovascularization Spasticity Alopecia of scalp Abnormality of the dentition Prominent nasal bridge Hemiplegia/hemiparesis High forehead Abnormality of the foot Hyperactivity Coarse facial features Smooth philtrum Abnormality of the fingernails Long face Long philtrum Behavioral abnormality Anteverted nares Intellectual disability, profound Macrocephaly Brachydactyly Low-set ears Ptosis Thickened skin Micrognathia Short palm Downturned corners of mouth Hearing impairment Prominent nose Dental malocclusion Skin ulcer Carious teeth Alopecia Talipes equinovarus Hypsarrhythmia Camptodactyly Ataxia Ankle contracture Respiratory distress Hypertonia Cerebellar atrophy Splenomegaly Epicanthus Long fingers Depressed nasal bridge Abnormal facial shape Failure to thrive Osteomyelitis Sensory neuropathy Retinopathy Abnormal pyramidal sign Skeletal muscle atrophy Cerebral visual impairment Arachnodactyly Progressive visual loss Type I transferrin isoform profile Microphthalmia Neoplasm Corneal opacity Trigonocephaly Emotional lability Fever Cardiomyopathy Irritability Self-injurious behavior Opacification of the corneal stroma Poor suck Hemangioma Venous thrombosis Renal insufficiency Flat occiput Abnormality of metabolism/homeostasis Skeletal dysplasia Truncal ataxia Decreased liver function Developmental regression Abnormal autonomic nervous system physiology Nyctalopia Postnatal microcephaly Abnormality of eye movement Progressive neurologic deterioration Hip dislocation Short metacarpal Reduced protein S activity Heat intolerance Lack of skin elasticity Acral ulceration Hypoglycosylation of alpha-dystroglycan Poor wound healing Lichenification Aseptic necrosis Pain insensitivity Pontocerebellar atrophy Hypotrichosis of the scalp Abnormality of dental color Abnormal myelination Abnormal macular morphology Palmar hyperkeratosis Reduced antithrombin III activity Prolonged partial thromboplastin time Respiratory insufficiency Neuropathic arthropathy Autoamputation of digits Deep venous thrombosis Episodic fever Impaired pain sensation Decreased number of small peripheral myelinated nerve fibers Postural hypotension with compensatory tachycardia Upper limb undergrowth Reduced protein C activity Weak cry Lower limb hyperreflexia Bowel incontinence Increased variability in muscle fiber diameter Anhidrosis Muscle weakness Abnormality of epiphysis morphology Squamous cell carcinoma of the skin Abnormal heart morphology Myopia Abnormality of corneal stroma Trichiasis Moderate hearing impairment Generalized hyperkeratosis Recurrent bacterial skin infections Keratoconjunctivitis Abnormality of the tongue Neonatal hypotonia Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Furrowed tongue Dystrophic toenail Corneal erosion Abnormal eyelash morphology Severe hearing impairment Recurrent respiratory infections Abnormality of the nervous system Macule Short phalanx of finger Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Anonychia Triphalangeal thumb Abnormal dermatoglyphics High myopia Respiratory tract infection Bilateral sensorineural hearing impairment Dandy-Walker malformation Renal agenesis Abnormality of the skin Polyneuropathy Everted lower lip vermilion Short distal phalanx of finger Wide mouth Cellulitis Aplasia/Hypoplasia of the eyebrow Abnormality of retinal pigmentation Pointed chin Visual loss Cryptorchidism Absent nares Female infertility Macroorchidism Limited elbow extension Delayed gross motor development Holoprosencephaly Hypotelorism Delayed skeletal maturation Tapered finger Intellectual disability, moderate Obesity Intellectual disability, mild Miosis Heart block Hammertoe Anosmia Delayed myelination Cerebellar hypoplasia Hypoplastic toenails Conjunctivitis Absent eyebrow Congenital sensorineural hearing impairment Scaling skin Urticaria Reduced tendon reflexes Neoplasm of the skin Osteolysis Sparse eyelashes Elbow flexion contracture Carcinoma Sparse and thin eyebrow Hypohidrosis Aganglionic megacolon Delayed eruption of teeth Palmoplantar keratoderma Scarring Erythema Arthritis Intention tremor Abnormality of dental morphology Small hand Dysphonia Decreased fertility Basal cell carcinoma Spastic diplegia Intestinal obstruction Erythroderma Abnormality of the thorax Brittle hair Macular degeneration Congenital ichthyosiform erythroderma Increased bone mineral density Chronic diarrhea Abnormality of the face Cutaneous photosensitivity Eczema Asthma Microcornea Freckling Hyperactive deep tendon reflexes Small for gestational age Jerky ocular pursuit movements Hernia Midface retrusion Malar flattening Frontal bossing Cleft palate Lack of subcutaneous fatty tissue Tiger tail banding Abnormality of hair texture IgG deficiency Titubation Trichorrhexis nodosa Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Progeroid facial appearance Fragile nails Malabsorption Protruding ear Clinodactyly of the 5th finger Distal sensory loss of all modalities Macrotia Clinodactyly Pectus excavatum Diarrhea Vomiting Hypoplasia of the corpus callosum Autoamputation Sensory axonal neuropathy Abnormality of the pinna Cerebral palsy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Paresthesia Paraplegia Spastic paraplegia Muscular hypotonia of the trunk Coloboma Retrognathia Portal fibrosis Hypogonadism Pneumonia Babinski sign Areflexia Cognitive impairment Food intolerance Clinodactyly of the 5th toe Decreased light- and dark-adapted electroretinogram amplitude Arthrogryposis multiplex congenita Villous atrophy Severe vision loss Hypoplastic nipples Adducted thumb Joint contracture of the hand Bifid uvula Iris coloboma Inguinal hernia Posteriorly rotated ears High, narrow palate Generalized osteoporosis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Cleft soft palate Incomprehensible speech Conical tooth Broad hallux phalanx Short columella Narrow nose Abnormality of the periventricular white matter Restlessness Abnormality of digit Dacryocystitis Narrow maxilla Myopathic facies Elevated serum creatine phosphokinase Dysmetria Muscular dystrophy Apnea Elevated hepatic transaminase EEG abnormality Gait ataxia Prominent forehead Patent ductus arteriosus Conspicuously happy disposition Myopathy Edema Tremor Hepatomegaly Hypertension Motor delay Narrow jaw Long nose Bilateral talipes equinovarus Osteoporosis Postnatal growth retardation Joint hyperflexibility Poor speech Facial asymmetry Abnormality of the cerebral white matter Broad forehead Short philtrum Attention deficit hyperactivity disorder Joint laxity Thin vermilion border Aggressive behavior Anxiety Thin upper lip vermilion Osteopenia Autism Narrow mouth Brachycephaly Talipes Thick eyebrow Overlapping toe Dental crowding Dermal atrophy Relative macrocephaly Tented upper lip vermilion Oligodontia Drooling Microretrognathia Long eyelashes Broad thumb Wide nose Broad-based gait Thin skin Hemiparesis Short palpebral fissure Decreased testicular size Convex nasal ridge Ectodermal dysplasia Sleep disturbance Profound sensorineural hearing impairment


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