Skeletal muscle atrophy, and Hypotrichosis

Low match GAPO SYNDROME

The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.

GAPO SYNDROME Is also known as growth retardation, alopecia, pseudoanodontia, and optic atrophy

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Growth delay
• Nystagmus

SOURCES: OMIM MONDO

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early death. Cognitive development is normal. Onset is usually within the first year of life (review by Hennekam, 2006). The designation Hutchinson-Gilford progeria syndrome appears to have been first used by DeBusk (1972).A subset of patients with heterozygous mutations in the LMNA gene and a phenotype similar to HGPS have shown onset of the disorder in late childhood or in the early teenage years, and have longer survival than observed in classic HGPS (Chen et al., 2003; Hegele, 2003).Other disorders with a less severe, but overlapping phenotype include mandibuloacral dysplasia (MADA ), an autosomal disorder caused by homozygous or compound heterozygous mutations in the LMNA gene, dilated cardiomyopathy with hypergonadotropic hypogonadism (OMIM ), caused by heterozygous mutation in the LMNA gene, and Werner syndrome (OMIM ), an autosomal recessive progeroid syndrome caused by homozygous or compound heterozygous mutations in the RECQL2 gene (OMIM ).

HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS Is also known as progeria;hgps; progeria

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Short stature
• Pica
• Hearing impairment

SOURCES: ORPHANET OMIM SCTID ICD10 UMLS

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;trisomy 21

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

SOURCES: ORPHANET MONDO NCIT ICD10 SCTID OMIM MESH ICD9 UMLS

Low match HYPOTRICHOSIS 12; HYPT12

• Autosomal dominant inheritance
• Intellectual disability
• Alopecia
• Hyperhidrosis
• Abnormality of the nervous system

SOURCES: MONDO DOID OMIM UMLS

Low match ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS

, 16q22.1).

ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS Is also known as eem syndrome;ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

• Autosomal recessive inheritance
• Strabismus
• Abnormality of the dentition
• Syndactyly
• Retinopathy

SOURCES: UMLS GARD OMIM ORPHANET SCTID MESH MONDO

Low match HYPOTRICHOSIS 13; HYPT13

HYPOTRICHOSIS 13; HYPT13 Is also known as hypotrichosis with woolly hair

• Autosomal dominant inheritance
• Hyperhidrosis
• Papule
• Hypotrichosis
• Woolly hair

SOURCES: UMLS OMIM MONDO DOID

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). Genetic Heterogeneity of Autosomal Recessive Congenital IchthyosisAutosomal recessive congenital ichthyosis-2 (ARCI2 ) is caused by mutation in the ALOX12B gene (OMIM ) on chromosome 17p13.1. ARCI3 (OMIM ) is caused by mutation in the ALOXE3 gene (OMIM ) on chromosome 17p13.1. ARCI4A (OMIM ) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene (OMIM ) on chromosome 2q35. ARCI5 (OMIM ) is caused by mutation in the CYP4F22 gene (OMIM ) on chromosome 19p13. ARCI6 (OMIM ) is caused by mutation in the NIPAL4 gene (ichthyin ) on chromosome 5q33. ARCI7 (OMIM ) has been mapped to chromosome 12p11. ARCI8 (OMIM ) is caused by mutation in the LIPN gene (OMIM ) on chromosome 10q23. ARCI9 (OMIM ) is caused by mutation in the CERS3 gene (OMIM ) on chromosome 15q26. ARCI10 (OMIM ) is caused by mutation in the PNPLA1 gene (OMIM ) on chromosome 6p21. ARCI11 (OMIM ) is caused by mutation in the ST14 gene (OMIM ) on chromosome 11q24. ARCI12 (OMIM ) is caused by mutation in the CASP14 gene (OMIM ) on chromosome 19p13. ARCI13 (OMIM ) is caused by mutation in the SDR9C7 gene (OMIM ) on chromosome 12q13. ARCI14 (OMIM ) is caused by mutation in the SULT2B1 gene (OMIM ) on chromosome 19q13.Ichthyosis prematurity syndrome (OMIM ) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4 ) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome (OMIM ), is caused by mutation in the ABHD5 gene (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 Is also known as ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution, collodion baby, self-healing;shcb, ichthyosis congenita, lamellar exfoliation of newborn, desquamation of newborn, collodion fetus, ichthyosis congenita ii;icr2, ichthyosis, lamellar, 1, formerly;li1, formerly;shcb; sici; self-healing collodion baby; self-improving congenital ichthyosis

• Autosomal recessive inheritance
• Pica
• Failure to thrive
• Flexion contracture
• Nevus

SOURCES: ICD10 MONDO ORPHANET OMIM

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

• Abnormal facial shape
• Peripheral neuropathy
• Hepatomegaly
• Skeletal muscle atrophy
• Splenomegaly

SOURCES: NCIT UMLS MESH EFO SCTID MONDO ORPHANET GARD DOID

Low match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Hearing impairment

SOURCES: OMIM UMLS ORPHANET MONDO

Low match POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP

Poikiloderma, characterized by mottled pigmentation, telangiectasia, and epidermal atrophy, can be accompanied by tendon contractures, myopathy, and progressive pulmonary fibrosis. Clinical manifestations include poikiloderma from early childhood with telangiectasia and pigmentary anomalies on sun-exposed areas, tendon contractures that tend to involve the ankles and feet with gait disturbances, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. Additional features include heat intolerance, reduced sweating, and thin hair (summary by Mercier et al., 2013).

POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP Is also known as poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement;poiktmp syndrome

• Autosomal dominant inheritance
• Scoliosis
• Cataract
• Muscle weakness
• Flexion contracture

SOURCES: UMLS ORPHANET OMIM GARD MONDO