Nystagmus, and Carious teeth

Diseases related with Nystagmus and Carious teeth

In the following list you will find some of the most common rare diseases related to Nystagmus and Carious teeth that can help you solving undiagnosed cases.


Top matches:

Medium match JALILI SYNDROME


Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).

JALILI SYNDROME Is also known as cone rod dystrophy-amelogenesis imperfecta syndrome|cone-rod dystrophy and amelogenesis imperfecta

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Optic atrophy
  • Blindness
  • Abnormality of the dentition


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about JALILI SYNDROME

Medium match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Medium match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

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Other less relevant matches:

Medium match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1


Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Medium match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Medium match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Medium match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match OCULODENTODIGITAL DYSPLASIA


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

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Top 5 symptoms//phenotypes associated to Nystagmus and Carious teeth

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Nystagmus and Carious teeth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Cataract Short stature Microcephaly Global developmental delay Mandibular prognathia Splenomegaly Blindness Failure to thrive Sparse hair Abnormality of the pinna Hepatomegaly Visual impairment Ataxia Myopia Recurrent infections Hypertelorism Muscle weakness Abnormality of dental enamel Macrocephaly Abnormality of the dentition Microcornea Hydrocephalus Lymphedema Epicanthus Ptosis Low-set ears Abnormal facial shape Micrognathia Immunodeficiency Progeroid facial appearance Hyperostosis Abnormality of skin pigmentation Dry skin Intellectual disability, severe Kyphosis Spasticity Hepatosplenomegaly Conductive hearing impairment Intrauterine growth retardation Sensorineural hearing impairment Arrhythmia Dry hair Clinodactyly of the 5th finger Upslanted palpebral fissure Proteinuria Anteverted nares Basal ganglia calcification

Rare Symptoms - Less than 30% cases


Decreased nerve conduction velocity Anhidrosis Dental malocclusion Opacification of the corneal stroma Pigmentary retinopathy Cutaneous photosensitivity Reduced subcutaneous adipose tissue Postnatal growth retardation Limitation of joint mobility Tremor Abnormality of the metacarpal bones Cranial hyperostosis Tooth abscess Cryptorchidism Flexion contracture Hypertension Renal insufficiency Polyneuropathy Microphthalmia Cerebral atrophy Severe short stature Micropenis Deeply set eye Hypermetropia Thickened calvaria Severe photosensitivity Abnormality of visual evoked potentials Generalized hirsutism Macrotia Hypoglycemia Abnormality of the nervous system Blepharophimosis Long face Abdominal distention Epidermal acanthosis Fine hair Dental crowding Long penis Constipation Syndactyly Abnormality of cardiovascular system morphology Glaucoma Finger syndactyly Hip dislocation Overgrowth Abnormal form of the vertebral bodies Abnormality of the nail Reduced number of teeth Polydactyly Short nose Atypical scarring of skin Slender nose Hypoplastic iliac wing Hypoplastic pelvis Hypoplasia of teeth Abnormal auditory evoked potentials Delayed eruption of primary teeth Decreased lacrimation Loss of facial adipose tissue Normal pressure hydrocephalus Increased cellular sensitivity to UV light Peripheral dysmyelination Atrial septal defect Square pelvis bone Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter Neoplasm Dysarthria Gait disturbance Cerebral calcification Depressed nasal bridge Brachydactyly Ventricular septal defect Abnormality of the metaphysis Hyperkeratosis Proptosis Thin upper lip vermilion Photophobia Facial paralysis Osteopetrosis Thrombocytopenia Pneumonia Osteomyelitis Posteriorly rotated ears Abnormality of dental color Coarse facial features Hypocalcemia Nyctalopia Bone marrow hypocellularity Increased bone mineral density Smooth philtrum Pancytopenia Decreased antibody level in blood Facial palsy Frontal bossing Feeding difficulties Anemia Taurodontia Motor delay Extramedullary hematopoiesis Abnormality of the skeletal system Scoliosis Edema Microdontia Scotoma Growth delay Aplasia/Hypoplasia of the cerebellum Optic disc pallor Abnormality of retinal pigmentation Selective tooth agenesis Kyphoscoliosis Broad columella Skeletal dysplasia Trichorrhexis nodosa 3-4 toe syndactyly Abdominal pain Carcinoma Intellectual disability, moderate Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Joint stiffness Short middle phalanx of the 5th finger Downslanted palpebral fissures Headache Retinal dysplasia Abnormality iris morphology Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Madelung deformity Broad alveolar ridges Progressive spastic paraparesis 4-5 finger syndactyly Hyperintensity of cerebral white matter on MRI Vertebral hyperostosis Narrow nasal ridge Abnormal diaphysis morphology Thin anteverted nares Pain Premature loss of primary teeth Fever Pseudohypoparathyroidism Mild global developmental delay Premature loss of teeth Low hanging columella Cleft upper lip Pallor Hypoplasia of dental enamel Short palpebral fissure Tetraparesis Hypotelorism Progressive visual loss Underdeveloped nasal alae Palmoplantar keratoderma Flat face Paresthesia Spastic paraparesis Paraplegia Toe syndactyly Hypotrichosis Abnormality of the cerebral white matter Spastic paraplegia Camptodactyly of finger Abnormality of the eye Camptodactyly Umbilical hernia Paraparesis Abnormality of the fingernails Fragile nails High hypermetropia Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Dolichocephaly Hyperactive deep tendon reflexes Curly hair Metaphyseal dysplasia Narrow nasal bridge Spastic tetraparesis Progressive spasticity Abnormality of the ear Non-midline cleft lip Preaxial hand polydactyly Cubitus valgus Hand polydactyly Brittle hair Preaxial polydactyly Bilateral ptosis Abnormality of vision Craniosynostosis Thickened skin Facial asymmetry Visceral angiomatosis Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Thin bony cortex Nephrogenic diabetes insipidus Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Varicose veins Epibulbar dermoid Keloids Meningioma Thymus hyperplasia Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Nevus sebaceous Upper limb asymmetry Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Testicular neoplasm Deep venous thrombosis Macroorchidism Confusion Cone/cone-rod dystrophy Cachexia Growth abnormality Palmoplantar hyperkeratosis Goiter Hemangioma Venous thrombosis Lymphopenia Abnormal vertebral morphology Sinusitis Subcutaneous nodule Chorioretinal coloboma Heterotopia Open mouth High myopia Round face Nevus Gliosis Sudden cardiac death Renal cyst Polymicrogyria Lipodystrophy Melanocytic nevus Abnormality of the wrist Spinal canal stenosis Abnormality of finger Spinal cord compression Capillary hemangioma Papilledema Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Irregular hyperpigmentation Pulmonary embolism Diabetes insipidus Generalized hyperpigmentation Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass High forehead Abnormality of the abdominal wall Clinodactyly Pulmonary fibrosis Recurrent respiratory infections Reduced visual acuity Retrognathia Respiratory tract infection Neutropenia Hip dysplasia Recurrent bacterial infections Albinism Severe failure to thrive Intellectual disability, mild Hypoplasia of the iris Periodontitis Ocular albinism Fair hair Acetabular dysplasia Interstitial pneumonitis Granulocytopenia Dermal atrophy Congenital neutropenia Long philtrum Abnormal peripheral myelination Intermittent thrombocytopenia Leukodystrophy Chorioretinitis Retinal pigment epithelial mottling CNS demyelination Menstrual irregularities Severe postnatal growth retardation Large hands Neoplasm of the skin Atherosclerosis Knee flexion contracture Anorexia Wide nasal bridge Subcortical cerebral atrophy Peripheral demyelination Retinopathy Hypogonadism Dementia Mild hearing impairment Abnormality of the inner ear Cerebellar calcifications Subcortical white matter calcifications Abnormality of the hair Aberrant melanosome maturation Generalized hypotonia Bone pain Fractures of the long bones Generalized osteosclerosis Abnormal cranial nerve morphology Aseptic necrosis Rhinitis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Cranial nerve paralysis Joint dislocation Abnormality of epiphysis morphology Sandwich appearance of vertebral bodies Recurrent urinary tract infections Osteoarthritis Ectodermal dysplasia Recurrent fractures Neurodegeneration Short distal phalanx of finger Genu valgum Paralysis Arthritis Hip osteoarthritis Lumbar scoliosis Acidosis Pathologic fracture Congenital cataract Small for gestational age Prominent nasal bridge Aganglionic megacolon Coxa vara Elevated alkaline phosphatase Osteoporosis Ophthalmoparesis Flared metaphysis Hyperparathyroidism Abnormal leukocyte morphology Renal tubular acidosis Retinal atrophy Choanal stenosis Tetany Progressive macrocephaly Abnormality of the vertebral endplates Mandibular osteomyelitis Secondary hyperparathyroidism Elevated serum acid phosphatase Thymic hormone decreased Muscular hypotonia Open bite Precocious puberty Growth hormone excess Prematurely aged appearance Abnormality of the thyroid gland Metatarsus adductus Hyperglycemia Neonatal respiratory distress Clitoral hypertrophy Sparse eyebrow Poor suck Ketoacidosis Polycystic ovaries Coarse hair Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Narrow palate Macular atrophy Narrow face Preauricular skin tag Bell-shaped thorax Ovoid vertebral bodies Insulin resistance Female pseudohermaphroditism Abnormality of color vision Hyperreflexia Cognitive impairment Cleft palate Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Macrodontia Furrowed tongue Broad eyebrow Dilatation Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Hypocholesterolemia Thick nail Ovarian cyst Bilateral conductive hearing impairment Sparse and thin eyebrow Wide anterior fontanel Hemianopia Absent speech Depressivity Gastroesophageal reflux Narrow mouth Rod-cone dystrophy Cerebral cortical atrophy Brachycephaly Diabetes mellitus Prominent forehead Anxiety Hallucinations Choriocapillaris atrophy Schizophrenia Hypoplasia of the corpus callosum Respiratory distress Abnormal electroretinogram Ventriculomegaly Vestibular dysfunction Peripheral neuropathy Iris hypopigmentation High palate Pes planus Neonatal hypotonia Amelogenesis imperfecta Postaxial polydactyly Thin skin Hypertrichosis Pendular nystagmus Coarctation of aorta Dehydration Intestinal malrotation Achromatopsia Single transverse palmar crease Thick vermilion border Iris coloboma Monochromacy Hirsutism Anterior open bite Astigmatism Coloboma Hyperlordosis Feeding difficulties in infancy Abnormality of the kidney Telecanthus Muscular hypotonia of the trunk Mandibular hyperostosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Bulbous nose, related diseases and genetic alterations Melanoma and Bilateral sensorineural hearing impairment, related diseases and genetic alterations Neuroblastoma and Abnormality of the cerebral white matter, related diseases and genetic alterations Macrocephaly and Broad forehead, related diseases and genetic alterations

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