Cataract, and Nail dystrophy
Diseases related with Cataract and Nail dystrophy
In the following list you will find some of the most common rare diseases related to Cataract and Nail dystrophy that can help you solving undiagnosed cases.
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Low match AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|ppk-ca, stevanovic type
Related symptoms:
- Scoliosis
- Cataract
- Flexion contracture
- Alopecia
- Hyperhidrosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIALow 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 CONGENITALow 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
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Low match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA
Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb
Related symptoms:
- Hearing impairment
- Growth delay
- Cataract
- Anemia
- Flexion contracture
More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA
Low match CRONKHITE-CANADA SYNDROME
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome
Related symptoms:
- Seizures
- Neoplasm
- Muscle weakness
- Pain
- Cataract
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about CRONKHITE-CANADA SYNDROMELow match ROTHMUND-THOMSON SYNDROME TYPE 2
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2
Related symptoms:
- Growth delay
- Cataract
- Anemia
- Frontal bossing
- Diarrhea
More info about ROTHMUND-THOMSON SYNDROME TYPE 2
Low match AYME-GRIPP SYNDROME; AYGRP
Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).
AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about AYME-GRIPP SYNDROME; AYGRP
Low 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 NEUTROPENIALow 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 BULLOSALow match SCALP-EAR-NIPPLE SYNDROME
Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Abnormal facial shape
- Cataract
- Low-set ears
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about SCALP-EAR-NIPPLE SYNDROMETop 5 symptoms//phenotypes associated to Cataract and Nail dystrophy
| Symptoms // Phenotype | % cases |
|---|---|
| Alopecia | Common - Between 50% and 80% cases |
| Nail dysplasia | Uncommon - Between 30% and 50% cases |
| Palmoplantar keratoderma | Uncommon - Between 30% and 50% cases |
| Carious teeth | Uncommon - Between 30% and 50% cases |
| Hyperhidrosis | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Cataract and Nail dystrophy. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hyperkeratosis Anemia Abnormality of the dentition Abnormal blistering of the skin Abnormality of the fingernails Short stature Mandibular prognathia Conjunctivitis Blepharitis Narrow mouth Abnormal facial shape Depressed nasal bridge Growth delay Atrophic scars Flexion contracture Brittle hair Hypotrichosis
Rare Symptoms - Less than 30% cases
Cutaneous photosensitivity Neutropenia Osteosarcoma Clubbing Generalized hyperpigmentation Ectodermal dysplasia Squamous cell carcinoma Clubbing of fingers Myelodysplasia Syndactyly Neoplasm Seizures Abnormality of the anus Osteopenia Diarrhea Frontal bossing Esophageal stricture Hearing impairment Abnormality of skin pigmentation Ichthyosis Dysphagia Renal insufficiency Constipation Dry skin Dilated cardiomyopathy Squamous cell carcinoma of the skin Ankyloglossia Milia Palmoplantar hyperkeratosis Poikiloderma Hyperpigmentation of the skin Subungual hyperkeratosis Sparse scalp hair Congenital cataract Microtia Dystrophic fingernails Abnormality of the nail Abnormality of the hair Camptodactyly Thick nail Short nose Malar flattening Hepatomegaly Cognitive impairment Tapered finger Midface retrusion Low-set ears Epicanthus Hypoalbuminemia Hypertelorism Fine hair Splenomegaly Finger syndactyly Sparse hair Global developmental delay Abnormality of nail color Corneal erosion Visual loss Toe syndactyly Increased antibody level in blood Osteoporosis Delayed puberty Carcinoma Progressive visual loss Wheezing Hypoplasia of dental enamel Scarring Cardiomyopathy Recurrent otitis media Recurrent pneumonia Pruritus Bilateral camptodactyly Eczema Arnold-Chiari type I malformation High forehead Thin upper lip vermilion Smooth philtrum Thin vermilion border Abnormality of the scalp Flat face Tented upper lip vermilion Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Shallow orbits Otitis media Broad philtrum Broad eyebrow Neoplasm of the skin Craniofacial asymmetry Pneumonia Recurrent respiratory infections Respiratory failure Respiratory tract infection Skin rash Cough Asthma Joint contracture of the hand Mitten deformity Dermal atrophy Short columella Type I diabetes mellitus Narrow palpebral fissure Cutaneous syndactyly Abnormality of the urinary system Abnormality of the thorax Cupped ear 2-3 toe syndactyly Agenesis of permanent teeth Multiple lipomas Narrow nasal bridge Aplasia cutis congenita Hypoplastic nipples Palpebral edema Abnormality of the antihelix Recurrent urinary tract infections Eyelid coloboma Abnormality of the endocrine system Aplasia/Hypoplasia of the nipples Absent nipple Ureteral duplication Pyelonephritis Aplasia cutis congenita of scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Small earlobe Breast aplasia Bilateral renal hypoplasia Hypohidrosis Renal hypoplasia Ectropion Generalized hypotonia Malnutrition Skin vesicle Fragile skin Atypical scarring of skin Corneal scarring Scarring alopecia of scalp Absent toenail Absent fingernail Refractory anemia Loss of eyelashes Esophageal stenosis Hypoplastic helices Spontaneous esophageal perforation Hypertension Hypotelorism Myopia Anteverted nares Brachycephaly Telecanthus Abnormality of the kidney Abnormality of the pinna Protruding ear Blepharophimosis Coloboma Iris coloboma Delayed eruption of teeth Vesicoureteral reflux Abnormality of the skin Renal agenesis Scoliosis Hypogonadism Upslanted palpebral fissure Absent axillary hair Fair hair Sparse axillary hair Sparse pubic hair Onycholysis Craniofacial hyperostosis Alopecia totalis Slow-growing hair Abnormal nasolacrimal system morphology Hypohidrotic ectodermal dysplasia Hyperconvex nail Clubbing of toes Hidrotic ectodermal dysplasia Irregular hyperpigmentation Palmar hyperkeratosis Absent pubic hair Nephropathy Recurrent skin infections Keratitis Microglossia Stenosis of the external auditory canal Abnormal vagina morphology Skin erosion Tongue atrophy Oral mucosal blisters Fragile nails Scaling skin Pain Anonychia Erythema Amniotic constriction ring Trichorrhexis nodosa Leukonychia Fingernail dysplasia Trichodysplasia Sclerodactyly Congenital alopecia totalis Respiratory insufficiency Corneal dystrophy Laryngomalacia Natal tooth Hand polydactyly Hamartoma Oral leukoplakia Epidermoid cyst Skin plaque Steatocystoma multiplex Strabismus Photophobia Small nail Sparse and thin eyebrow Skin ulcer Sparse eyelashes Muscle weakness Macrocephaly Posteriorly rotated ears Prematurely aged appearance Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Skeletal dysplasia Nausea and vomiting Microdontia Short thumb Hypoplasia of the radius Absent eyebrow Basal cell carcinoma Absent eyelashes Hamartomatous polyposis Concave nasal ridge Hypoplasia of teeth Intellectual disability Sensorineural hearing impairment Ptosis Brachydactyly Wide nasal bridge Downslanted palpebral fissures Intellectual disability, mild Long philtrum Cerebral atrophy Peripheral edema Stomach cancer Fatigue Cachexia Edema Vomiting Abdominal pain Weight loss Autoimmunity Malabsorption Paresthesia Anorexia Lymphedema Hypocalcemia Abnormal intestine morphology Hypokalemia Protein-losing enteropathy Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Colon cancer Sparse body hair Thromboembolism Xerostomia Abnormality of the vasculature Hypomagnesemia Hematochezia Dystrophic toenail Furrowed tongue Intestinal polyposis Duplication of renal pelvis
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