Cataract, and Nail dystrophy

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

• Scoliosis
• Cataract
• Flexion contracture
• Alopecia
• Hyperhidrosis

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

• Hearing impairment
• Growth delay
• Cataract
• Anemia
• Flexion contracture

SOURCES: ORPHANET MENDELIAN

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

• Seizures
• Neoplasm
• Muscle weakness
• Pain
• Cataract

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

• Growth delay
• Cataract
• Anemia
• Frontal bossing
• Diarrhea

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

• Global developmental delay
• Generalized hypotonia
• Abnormal facial shape
• Cataract
• Low-set ears

SOURCES: OMIM MESH ORPHANET MENDELIAN