Cataract, and Carious teeth

Diseases related with Cataract and Carious teeth

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


Top matches:

Medium match COCKAYNE SYNDROME TYPE 3


COCKAYNE SYNDROME TYPE 3 Is also known as cockayne syndrome type iii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 3

Medium match PACHYONYCHIA CONGENITA


Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

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

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Other less relevant matches:

Medium match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Medium match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

Medium match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Medium match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Medium match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Medium match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

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

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Palmoplantar keratoderma Hypertelorism Hyperkeratosis Abnormality of the dentition Blepharitis Conjunctivitis Cutaneous photosensitivity Hypoplasia of dental enamel Neoplasm

Rare Symptoms - Less than 30% cases


Microdontia Visual loss Wide nasal bridge Abnormal facial shape Sensorineural hearing impairment Cryptorchidism Sparse hair Abnormality of dental enamel Ataxia Malar flattening Midface retrusion Atrophic scars Ectodermal dysplasia Anteverted nares Long philtrum Mandibular prognathia Abnormality of nail color Delayed eruption of teeth Hyperpigmentation of the skin Microcephaly Failure to thrive Strabismus Nail dysplasia Optic atrophy Cognitive impairment Osteopenia Hyperhidrosis Abnormal blistering of the skin Anemia Iris coloboma Pneumonia Neoplasm of the skin Brittle hair Thick nail Prominent supraorbital ridges Growth delay Recurrent otitis media Recurrent pneumonia Myelodysplasia Increased antibody level in blood Poikiloderma Dysphagia Constipation Cardiomyopathy Narrow mouth Osteosarcoma Flexion contracture Syndactyly Osteoporosis Subungual hyperkeratosis Wheezing Global developmental delay Eczema Poor coordination Weight loss Deeply set eye Elevated hepatic transaminase Proteinuria Dry skin Vertigo Ascites Narrow face Cachexia High pitched voice Prematurely aged appearance Absence of subcutaneous fat Otitis media Bird-like facies Lack of subcutaneous fatty tissue Depressed nasal bridge Splenomegaly Short nose Recurrent respiratory infections Respiratory failure Respiratory tract infection Skin rash Cough Neutropenia Asthma Carcinoma Skin vesicle Scarring Esotropia Thin upper lip vermilion Joint laxity Wide mouth Prominent nasal bridge Narrow chest Pulmonic stenosis Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Thin vermilion border Wide nose Hypoplasia of the maxilla Bifid uvula Prominent nose Large fontanelles Skeletal dysplasia Wide anterior fontanel Hemangioma Coarse hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Pes planus Gastroesophageal reflux Dilated cardiomyopathy Squamous cell carcinoma of the skin Pruritus Toe syndactyly Delayed puberty Progressive visual loss Joint contracture of the hand Dermal atrophy Hypoalbuminemia Ectropion Squamous cell carcinoma Malnutrition Milia Fragile skin Atypical scarring of skin Corneal erosion Ankyloglossia Prominent forehead Esophageal stenosis Macrocephaly Delayed speech and language development High palate Cleft palate Spontaneous esophageal perforation Mitten deformity Loss of eyelashes Esophageal stricture Refractory anemia Absent fingernail Abnormality of the anus Absent toenail Scarring alopecia of scalp Corneal scarring Severe short stature Brachycephaly Renal insufficiency Hypodontia Scotoma Iris hypopigmentation Hemianopia Subcortical cerebral atrophy Abnormality of dental color Mild hearing impairment Abnormality of the inner ear Micrognathia Microphthalmia Coloboma Long face Microcornea Full cheeks Aplasia/Hypoplasia of the cerebellum Bilateral sensorineural hearing impairment Gingival overgrowth Progressive hearing impairment Progressive sensorineural hearing impairment Increased number of teeth Ankylosis Taurodontia Periodontitis Retinal coloboma High-frequency hearing impairment Macrodontia Pulp stones Vestibular dysfunction Abnormal electroretinogram Odontoma Natal tooth Spasticity Tremor Severe photosensitivity Hepatomegaly Respiratory insufficiency Ichthyosis Abnormality of the hair Abnormality of the nail Abnormality of the fingernails Corneal dystrophy Laryngomalacia Anonychia Hamartoma Schizophrenia Oral leukoplakia Epidermoid cyst Skin plaque Steatocystoma multiplex Nystagmus Myopia Blindness Depressivity Rod-cone dystrophy Cerebral cortical atrophy Anxiety Nyctalopia Hallucinations High-frequency sensorineural hearing impairment Lens coloboma Intellectual disability, mild Arachnodactyly Hyperconvex nail Clubbing of toes Absent axillary hair Hidrotic ectodermal dysplasia Palmar hyperkeratosis Absent pubic hair Intellectual disability Epicanthus Brachydactyly Hydrocephalus Glaucoma Telecanthus Cerebral calcification Abnormal nasolacrimal system morphology Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Visual impairment Hypertension Ventriculomegaly Respiratory distress Hypohidrotic ectodermal dysplasia Slow-growing hair Agenesis of premolar Skin ulcer Otitis media with effusion Abnormality of the maxilla Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp Photophobia Finger syndactyly Hypotrichosis Small nail Fine hair Sparse scalp hair Sparse and thin eyebrow Sparse eyelashes Alopecia totalis Palmoplantar hyperkeratosis Hand polydactyly Scaling skin Clubbing Generalized hyperpigmentation Irregular hyperpigmentation Fragile nails Fair hair Sparse axillary hair Clubbing of fingers Sparse pubic hair Onycholysis Craniofacial hyperostosis Forehead hyperpigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypotrichosis, related diseases and genetic alterations Macrocephaly and Spinal muscular atrophy, related diseases and genetic alterations Myopathy and Camptodactyly, related diseases and genetic alterations Low-set ears and Retrognathia, related diseases and genetic alterations Flexion contracture and Parkinsonism, related diseases and genetic alterations Sensorineural hearing impairment and Malar flattening, related diseases and genetic alterations

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