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.
Top matches:
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 ALOPECIA
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
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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Other less relevant matches:
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
SOURCES:
ORPHANET
MENDELIAN
More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA
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 SYNDROME
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
SOURCES:
ORPHANET
MENDELIAN
More info about ROTHMUND-THOMSON SYNDROME TYPE 2
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
SOURCES:
OMIM
MENDELIAN
More info about AYME-GRIPP SYNDROME; AYGRP
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
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
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 SYNDROME
Top 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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Epicanthus and Generalized muscle weakness, related diseases and genetic alterations
Pain and Abnormality of the dentition, related diseases and genetic alterations
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