Cataract, and Hyperhidrosis

Low match UNCOMBABLE HAIR SYNDROME 2; UHS2

Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (OMIM ).

• Cataract
• Alopecia
• Hyperhidrosis
• Hypotrichosis
• Juvenile cataract

SOURCES: OMIM MENDELIAN

Low match WOOLLY HAIR

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.

WOOLLY HAIR Is also known as wooly hair|familial woolly hair syndrome|hereditary woolly hair syndrome|familial wooly hair syndrome|hereditary wooly hair syndrome

• Strabismus
• Cataract
• Hyperhidrosis
• Hyperkeratosis
• Nevus

SOURCES: OMIM ORPHANET MENDELIAN

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

• Scoliosis
• Cataract
• Flexion contracture
• Alopecia
• Hyperhidrosis

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

• Scoliosis
• Muscle weakness
• Cataract
• Flexion contracture
• Hepatomegaly

SOURCES: OMIM ORPHANET MENDELIAN

Low match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

• Global developmental delay
• Short stature
• Generalized hypotonia
• Scoliosis
• Nystagmus

SOURCES: OMIM MENDELIAN

Low match BENIGN CHRONIC PEMPHIGUS; BCPM

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

• Intellectual disability
• Short stature
• Growth delay
• Neoplasm
• Pain

SOURCES: OMIM MENDELIAN

Low match VON HIPPEL-LINDAU DISEASE

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

• Hearing impairment
• Ataxia
• Nystagmus
• Neoplasm
• Sensorineural hearing impairment

SOURCES: ORPHANET MENDELIAN