Cataract, and Palmoplantar keratoderma

Diseases related with Cataract and Palmoplantar keratoderma

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


Top matches:

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 ALOPECIA

Low 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

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

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Other less relevant matches:

Low 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

Low 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


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

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 NEUTROPENIA

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 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3


KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 Is also known as kpps3|keratoderma, palmoplantar, striate form iii|striate palmoplantar keratoderma iii|sppk3

Related symptoms:

  • Palmoplantar keratoderma


SOURCES: OMIM MESH MENDELIAN

More info about KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Top 5 symptoms//phenotypes associated to Cataract and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Carious teeth Palmoplantar hyperkeratosis Cutaneous photosensitivity Abnormal blistering of the skin Abnormality of the dentition Brittle hair Blepharitis Nail dysplasia Myelodysplasia Hypotrichosis

Rare Symptoms - Less than 30% cases


Poikiloderma Hearing impairment Microcephaly Diabetes mellitus Skin rash Recurrent respiratory infections Neoplasm of the skin Scaling skin Hypermelanotic macule Splenomegaly Macule Osteosarcoma Neutropenia Irregular hyperpigmentation Abnormality of the testis Sparse hair Hyperpigmentation of the skin Skin ulcer Conjunctivitis Abnormality of nail color Growth delay Anemia Frontal bossing Scoliosis Palmar hyperkeratosis Dry skin Abnormality of skin pigmentation Erythema Subungual hyperkeratosis Cognitive impairment Hepatomegaly Abnormality of the hair Abnormality of the fingernails Ectodermal dysplasia Abnormality of the nail Oral leukoplakia Thick nail Ichthyosis Mandibular prognathia Malabsorption Immunodeficiency Thrombocytopenia Cerebellar hypoplasia Osteoporosis Leukemia Hepatic failure Cirrhosis Neoplasm Recurrent fractures Hypodontia Hypoplasia of the maxilla Lymphoma Specific learning disability Cerebral calcification Intrauterine growth retardation Ataxia Malar flattening Recurrent pneumonia Cough Asthma Respiratory failure Otitis media Eczema Recurrent otitis media Increased antibody level in blood Respiratory tract infection Atrophic scars Wheezing Flexion contracture Hepatic fibrosis Pneumonia Global developmental delay Midface retrusion Pancytopenia Dermal atrophy Lymphopenia Interstitial pneumonitis Abnormality of female internal genitalia Cellular immunodeficiency Testicular atrophy Abnormality of the pharynx Squamous cell carcinoma of the skin Urethral stenosis Abnormality of neutrophils Aplastic/hypoplastic toenail Aplastic anemia Porokeratosis Rough bone trabeculation Nail pits Reticular hyperpigmentation Anorectal anomaly Congenital bullous ichthyosiform erythroderma Displacement of the external urethral meatus Esophageal stenosis Ridged nail White hair Bone marrow hypocellularity Neurofibromas Abnormal intestine morphology Hypopigmented skin patches Tracheoesophageal fistula Epiphora Pulmonary fibrosis Premature graying of hair Abnormality of coagulation Skin vesicle Periodontitis Aplasia/Hypoplasia of the skin Telangiectasia of the skin Aseptic necrosis Premature loss of teeth Abnormal eyelash morphology Neoplasm of the pancreas Abnormal eyebrow morphology Taurodontia Short nose Epidermoid cyst Depressed nasal bridge Congenital alopecia totalis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Strabismus Photophobia Finger syndactyly Generalized hirsutism Small nail Fine hair Sparse scalp hair Sclerodactyly Sparse and thin eyebrow Trichodysplasia Fingernail dysplasia Respiratory insufficiency Thickened skin Hand polydactyly Glaucoma Steatocystoma multiplex Intellectual disability Hamartoma Natal tooth Brachydactyly Abnormality of cardiovascular system morphology Anonychia Weight loss Hypertrichosis Protruding ear Laryngomalacia Corneal opacity Pruritus Tapered finger Epidermal acanthosis Corneal dystrophy Sparse eyelashes Clubbing Abnormal facial shape Absent eyebrow Hypogonadism Osteopenia Skeletal dysplasia Nausea and vomiting Microdontia Short thumb Hypoplasia of the radius Squamous cell carcinoma Dystrophic fingernails Basal cell carcinoma Prematurely aged appearance Absent eyelashes Skin plaque Concave nasal ridge Hypoplasia of teeth Hypertelorism Diarrhea Amniotic constriction ring Generalized hyperpigmentation Craniofacial hyperostosis Leukonychia Fragile nails Fair hair Sparse axillary hair Clubbing of fingers Sparse pubic hair Onycholysis Alopecia totalis Absent pubic hair Slow-growing hair Abnormal nasolacrimal system morphology Hypohidrotic ectodermal dysplasia Hyperconvex nail Clubbing of toes Absent axillary hair Hidrotic ectodermal dysplasia Trichorrhexis nodosa Absent lacrimal punctum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Photophobia, related diseases and genetic alterations Melanoma and Depressed nasal ridge, related diseases and genetic alterations Hepatomegaly and Progressive neurologic deterioration, related diseases and genetic alterations Hyperreflexia and Autistic behavior, related diseases and genetic alterations Edema and Nail dysplasia, related diseases and genetic alterations

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