Skeletal muscle atrophy, and Hypotrichosis

Low match ULERYTHEMA OPHRYOGENESIS

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

• Skeletal muscle atrophy
• Pectus excavatum
• Alopecia
• Arthritis
• Erythema

SOURCES: ORPHANET OMIM MENDELIAN

Low match SÉZARY SYNDROME

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

• Neoplasm
• Abnormal facial shape
• Peripheral neuropathy
• Hepatomegaly
• Fever

SOURCES: MESH ORPHANET MENDELIAN

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

• Short stature
• Generalized hypotonia
• Hearing impairment
• Growth delay
• Neoplasm

SOURCES: OMIM MENDELIAN

Low match ATYPICAL WERNER SYNDROME

Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

• Short stature
• Failure to thrive
• Micrognathia
• Hypertension
• Skeletal muscle atrophy

SOURCES: ORPHANET MENDELIAN

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

• Intellectual disability
• Short stature
• Hearing impairment
• Scoliosis
• Growth delay

SOURCES: OMIM ORPHANET MENDELIAN

Low match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

ICHTHYOSIS-HYPOTRICHOSIS SYNDROME Is also known as ifah syndrome|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ihs|hypotrichosis-congenital ichthyosis syndrome

• Hypotrichosis
• Ichthyosis

SOURCES: 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 EEM SYNDROME

EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

EEM SYNDROME Is also known as eem syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

• Strabismus
• Abnormality of the dentition
• Syndactyly
• Abnormality of the eye
• Camptodactyly

SOURCES: ORPHANET OMIM MENDELIAN

Low match SELF-IMPROVING COLLODION BABY

Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

• Failure to thrive
• Flexion contracture
• Visual loss
• Alopecia
• Hyperhidrosis

SOURCES: OMIM ORPHANET MENDELIAN