Ataxia, and Nail dystrophy

Diseases related with Ataxia and Nail dystrophy

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


Top matches:

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Low match REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

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Other less relevant matches:

Low match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Low match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D


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

Top 5 symptoms//phenotypes associated to Ataxia and Nail dystrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Bone marrow hypocellularity Common - Between 50% and 80% cases
Cerebral calcification Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Nail dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Anemia

Common Symptoms - More than 50% cases


Oral leukoplakia

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Hearing impairment Hyperpigmentation of the skin Seizures Thrombocytopenia Abnormality of skin pigmentation Osteoporosis Sparse hair Hypertonia Scoliosis Cerebellar hypoplasia Osteopenia Cryptorchidism Microcephaly Nail dysplasia Aplastic anemia Failure to thrive Intellectual disability Pancytopenia Cataract Neoplasm Fine hair Abnormality of the dentition Epiphora Cirrhosis Blepharitis Dry skin Abnormal intestine morphology Premature graying of hair Pulmonary fibrosis Hyperhidrosis Hepatomegaly Splenomegaly Genu valgum Ridged nail Optic atrophy Leukemia Cerebral cortical atrophy Gastrointestinal hemorrhage Strabismus Generalized hypotonia Reticulated skin pigmentation Carious teeth Retinopathy

Rare Symptoms - Less than 30% cases


Thickened skin Diabetes mellitus Ventriculomegaly Peripheral axonal neuropathy Immunodeficiency Ptosis Hyporeflexia Micrognathia Distal amyotrophy Nevus Recurrent fractures Telangiectasia Hemiparesis Sparse scalp hair Sparse eyelashes Abnormality of the cerebral white matter Small for gestational age Excessive wrinkled skin Abnormal pyramidal sign Postnatal growth retardation Abnormal palate morphology Blindness Generalized hyperpigmentation Hyperkeratosis Behavioral abnormality Palmoplantar keratoderma Abnormal eyelash morphology Intellectual disability, severe Testicular atrophy Melanocytic nevus Hydrocephalus Kyphosis Abnormality of the testis Malar flattening Anteverted nares Reticular hyperpigmentation Downslanted palpebral fissures Pectus excavatum Premature loss of teeth Urethral stenosis Pes cavus Neurofibromas Abnormality of coagulation Autism Macrocephaly Myelodysplasia Dermal atrophy Skeletal muscle atrophy Peripheral neuropathy Macrotia Aggressive behavior Hypoplasia of the maxilla Dysarthria Skin ulcer Abnormal blistering of the skin Erythema Nystagmus Lymphoma Hypotrichosis Malabsorption Decreased testicular size Nail pits Delayed speech and language development Inflammatory abnormality of the skin Ridged fingernail Esophageal stricture Hypertension Conjunctivitis Exudative retinopathy Poor appetite Irritability Leukopenia Constipation Low-set ears Phimosis Midface retrusion Aseptic necrosis Hodgkin lymphoma Visual impairment Tremor Dystrophic fingernails Portal hypertension Hypogonadism Abnormal eyebrow morphology Alopecia of scalp Sleep disturbance Atrial septal defect Abnormal bleeding Abdominal distention Cardiomyopathy Full cheeks High forehead Intestinal malrotation Short neck Progressive visual loss Cafe-au-lait spot Decreased body weight Muscular hypotonia Open mouth Myocardial infarction Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Growth hormone deficiency Vesicoureteral reflux High palate Feeding difficulties Webbed neck Depressed nasal bridge Epicanthus Dental malocclusion Myopia Frontal bossing Dysphagia Premature birth Ventricular septal defect High, narrow palate Bruising susceptibility Hepatic steatosis Abnormal heart morphology Hernia Abnormality of the kidney Abnormality of the eye Depressivity Low-set, posteriorly rotated ears Telecanthus Hypertrophic cardiomyopathy Encephalopathy Hydronephrosis Inguinal hernia Respiratory tract infection Delayed skeletal maturation EEG abnormality Clinodactyly of the 5th finger Umbilical hernia Posteriorly rotated ears Prominent forehead Proptosis Cerebral visual impairment Coarse facial features Polyhydramnios Feeding difficulties in infancy Scarring Thick vermilion border Short nose Retinal dystrophy Edema Gastroesophageal reflux Vomiting Bulbous nose Falls Congestive heart failure Joint hypermobility Long face Long philtrum Abnormal cardiac septum morphology Cerebral atrophy Ichthyosis Astigmatism Pulmonic stenosis Hypermetropia Dolichocephaly Pruritus Neurological speech impairment Abnormality of cardiovascular system morphology Pectus carinatum Lymphedema Submucous cleft hard palate Aspiration Abnormality of hair texture Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of the pulmonary artery Generalized ichthyosis Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Hypoplasia of the frontal lobes Laryngeal cleft Abnormal hair pattern Muscle weakness Distal sensory loss of all modalities Osteomyelitis Sensory axonal neuropathy Cerebral palsy Sensory neuropathy Distal sensory impairment Paresthesia Paraplegia Spastic paraplegia Hyperreflexia Pain Oral aversion Functional abnormality of the gastrointestinal tract Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Abnormality of the optic nerve Thick upper lip vermilion Abnormality of the nail Poor suck Cubitus valgus Ectropion Pleural effusion Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Hyperextensible skin Relative macrocephaly Heart murmur Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Cutis laxa Oculomotor apraxia Narrow palate Chronic otitis media Obsessive-compulsive behavior Woolly hair Superiorly displaced ears Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Atopic dermatitis Underdeveloped supraorbital ridges Anal stenosis Curly hair Absent eyebrow Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Large for gestational age Hypertelorism Hypothyroidism Calcification of the auricular cartilage Specific learning disability Skin vesicle Macule Hypermelanotic macule Tracheoesophageal fistula Hypopigmented skin patches Neoplasm of the skin Abnormality of the fingernails Lymphopenia Hepatic fibrosis Hypodontia Telangiectasia of the skin Hepatic failure Recurrent respiratory infections Decreased pulmonary function Spastic hemiparesis Retinal telangiectasia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Esophageal varix Aplasia/Hypoplasia of the skin Neoplasm of the pancreas Hematochezia Anorectal anomaly Carcinoma Hepatosplenomegaly Hypospadias Respiratory distress Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Rough bone trabeculation Taurodontia Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Squamous cell carcinoma of the skin Abnormality of the pharynx Cellular immunodeficiency Abnormality of female internal genitalia White hair Periodontitis Calcinosis Abnormality of the vasculature Hypopigmentation of the skin Interstitial pulmonary abnormality Emotional lability Psoriasiform dermatitis Anorexia Chronic diarrhea Lethargy Photophobia Weight loss Diarrhea Pulmonary hemorrhage Abnormal lung morphology Pustule Fine, reticulate skin pigmentation Leukocoria Megalocornea Purpura Broad-based gait Progressive neurologic deterioration Abnormality of metabolism/homeostasis CNS hypomyelination Intellectual disability, profound Absent speech Steatorrhea Corneal erosion Pathologic fracture Mental deterioration Short femoral neck Hemiplegia Increased susceptibility to fractures Leukoencephalopathy Leukodystrophy Thin skin Abnormality of extrapyramidal motor function Febrile seizures Abnormality of movement Abnormality of the liver Dystonia Furrowed tongue Spasticity Increased serum zinc Low alkaline phosphatase Recurrent candida infections Decreased taste sensation Paronychia Glossitis Decreased testosterone in males Impaired T cell function Cheilitis Muscular hypotonia of the trunk Sepsis Increased size of the mandible Plagiocephaly Basal ganglia calcification Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Self-injurious behavior Schizophrenia Osteolysis Congenital hypothyroidism Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Gynecomastia Abnormal form of the vertebral bodies Thick lower lip vermilion Bradykinesia Hip dysplasia Sparse body hair Hip contracture Neurodegeneration Ectopic calcification Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Recurrent ear infections Striae distensae Bone cyst Generalized osteoporosis Tics Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Otitis media Downturned corners of mouth Gliosis Myeloid leukemia Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Abnormal leukocyte morphology Pancreatic adenocarcinoma Lacrimal duct stenosis Keratoconjunctivitis Chromosome breakage Acute myeloid leukemia Restrictive ventilatory defect Pterygium of nails Increased antibody level in blood Flared metaphysis Squamous cell carcinoma Neonatal respiratory distress Pterygium Anosmia Horseshoe kidney Truncal ataxia Decreased fetal movement Oligohydramnios Split nail Anal mucosal leukoplakia Short distal phalanx of finger Gait ataxia Narrow chest Synophrys Congenital cataract Broad forehead Prominent nasal bridge Protruding ear Developmental regression Conductive hearing impairment Deeply set eye Narrow mouth Brachycephaly Abnormal facial shape Agenesis of corpus callosum Babinski sign Areflexia Microphthalmia Intellectual disability, mild Myopathy Hypoplasia of the corpus callosum Abnormality of the skeletal system Gait disturbance Flexion contracture Autoamputation



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