Skeletal muscle atrophy, and Hypotrichosis

Diseases related with Skeletal muscle atrophy and Hypotrichosis

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Hypotrichosis that can help you solving undiagnosed cases.


Top matches:

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

Related symptoms:

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


SOURCES: OMIM MONDO

More info about GAPO SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET OMIM SCTID ICD10 UMLS

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

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

Related symptoms:

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


SOURCES: ORPHANET MONDO NCIT ICD10 SCTID OMIM MESH ICD9 UMLS

More info about DOWN SYNDROME

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Other less relevant matches:

Low match HYPOTRICHOSIS 12; HYPT12

Related symptoms:

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


SOURCES: MONDO DOID OMIM UMLS

More info about HYPOTRICHOSIS 12; HYPT12

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

Related symptoms:

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


SOURCES: UMLS GARD OMIM ORPHANET SCTID MESH MONDO

More info about ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS

Low match HYPOTRICHOSIS 13; HYPT13

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

Related symptoms:

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


SOURCES: UMLS OMIM MONDO DOID

More info about HYPOTRICHOSIS 13; HYPT13

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

Related symptoms:

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


SOURCES: ICD10 MONDO ORPHANET OMIM

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1

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

Related symptoms:

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


SOURCES: NCIT UMLS MESH EFO SCTID MONDO ORPHANET GARD DOID

More info about SÉZARY SYNDROME

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

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

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

Related symptoms:

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


SOURCES: UMLS ORPHANET OMIM GARD MONDO

More info about POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Hypotrichosis

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Hypotrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nail dysplasia Flexion contracture Abnormality of the dentition Cataract Papule Intellectual disability Hearing impairment Growth delay Nail dystrophy Short stature Neoplasm Ectodermal dysplasia Abnormal facial shape Global developmental delay

Rare Symptoms - Less than 30% cases


Sparse hair Limitation of joint mobility Hypodontia Delayed puberty Sparse and thin eyebrow Failure to thrive Carcinoma Conductive hearing impairment Narrow mouth Osteoporosis Malar flattening Neoplasm of the skin Hypertension Nevus Sensorineural hearing impairment Hypohidrosis Anhidrosis Microdontia Thrombocytosis Joint laxity Obesity Tics Strabismus Carious teeth Generalized osteoporosis Lack of skin elasticity Scleroderma Erythema Hyperkeratosis Ranula Palmoplantar keratoderma Ichthyosis Dry skin Epidermal acanthosis Squamous cell carcinoma Ectropion Erythroderma Parakeratosis Dermal atrophy Hepatomegaly Pruritus Scoliosis Osteolysis Pica Hypogonadism Macroglossia Acrania Thin vermilion border Dilated cardiomyopathy Dyspnea Umbilical hernia Macrotia Severe short stature Hypoplastic nipples Pneumonia Delayed skeletal maturation Cardiomyopathy Depressed nasal bridge Myopathy Cognitive impairment Motor delay Micrognathia Thick lower lip vermilion Midface retrusion Prominent scalp veins Ankylosis Mutism Neutrophilia Transient myeloproliferative syndrome Brushfield spots Atlantoaxial instability Crackles Round ear Duodenal stenosis Abnormality of the fontanelles or cranial sutures Acute megakaryocytic leukemia Shallow acetabular fossae Abnormality of the lymphatic system Trichorrhexis nodosa Complete atrioventricular canal defect Left-to-right shunt Heat intolerance Pulmonary edema Raynaud phenomenon Sparse eyelashes Macular degeneration Joint contracture of the hand Abnormality of retinal pigmentation Split hand Sparse scalp hair Camptodactyly Abnormality of the nervous system Finger syndactyly Abnormality of the eye Retinopathy Syndactyly Sparse or absent eyelashes Aplasia/Hypoplasia of the eyebrow Alopecia universalis Myeloproliferative disorder Acute monocytic leukemia Breast carcinoma Abnormality of blood and blood-forming tissues Abnormality of immune system physiology Thin eyebrow Broad palm Decreased fertility Hydroureter Cholelithiasis Atrioventricular canal defect Sandal gap Renal hypoplasia/aplasia Narrow palate Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Alzheimer disease Prematurely aged appearance Widely spaced teeth Acute lymphoblastic leukemia Short middle phalanx of the 5th finger Abnormality of the tongue Senile plaques Double outlet right ventricle Hypoxemia Hypoplastic iliac wing Polycythemia Impaired pain sensation Thickened nuchal skin fold Protruding tongue Hidrotic ectodermal dysplasia Neurofibrillary tangles Transposition of the great arteries Congenital hypothyroidism Abnormality of vision Macular dystrophy Abnormality of dental morphology Papilloma Abnormality of the gingiva Abnormal immunoglobulin level Lichenification Abnormality of the pleura Gangrene Irregular hyperpigmentation Abnormality of the face Abnormal lymphocyte morphology Lymphoma Curly hair Neoplasm of the lung Lymphadenopathy Palmoplantar hyperhidrosis Immunodeficiency Anal fissure Cutaneous T-cell lymphoma Splenomegaly Opacification of the corneal stroma Autoamputation Cutis laxa Melanoma Abnormality of the fingernails Thickened skin Inflammatory abnormality of the skin Skin ulcer Seizures Foot pain Agenesis of premolar Circumungual hyperkeratosis Fine hair Corneal opacity Pain Tremor Skin fissure Ainhum Woolly hair Clubbing Abnormal cornea morphology Hypergranulosis Visual loss Amniotic constriction ring Truncal obesity Achilles tendon contracture Oral leukoplakia Selective tooth agenesis Ectrodactyly Poikiloderma Sparse body hair Absent eyebrow Abnormal oral mucosa morphology Pulmonary fibrosis Telangiectasia Peripheral neuropathy Congenital ichthyosiform erythroderma Cicatricial lagophthalmos Desquamation of skin soon after birth Eclabion Congenital bullous ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma Muscle weakness Elevated serum creatine phosphokinase Everted lower lip vermilion Plantar hyperkeratosis Hypopigmentation of the skin Pili torti Palmoplantar hyperkeratosis Subungual hyperkeratosis Scarring Depressed nasal ridge Myopia Type II diabetes mellitus Dental crowding Decreased body weight Osteoarthritis Hypergonadotropic hypogonadism Insulin resistance Aortic valve stenosis Cyanosis Myocardial infarction Hypertriglyceridemia Aminoaciduria Thin skin Growth hormone deficiency Oligohydramnios Convex nasal ridge Infertility Delayed eruption of teeth Stroke Increased bone mineral density Hypogonadotrophic hypogonadism Hypermetropia Lipodystrophy Premature graying of hair Intracranial hemorrhage Broad-based gait Abnormality of the thorax Metaphyseal widening Premature ovarian insufficiency Relative macrocephaly Hyperlipidemia Coxa valga Hyperinsulinemia Nasal speech Atherosclerosis Aspiration Hypercholesterolemia Acanthosis nigricans Left ventricular hypertrophy Hepatic steatosis Hip dislocation Multiple joint contractures Glaucoma Delayed cranial suture closure Anal stenosis Wide anterior fontanel Respiratory tract infection Skeletal dysplasia Protruding ear High forehead Acidosis Papilledema Dilatation Coma Abnormality of metabolism/homeostasis Abnormality of the skeletal system Frontal bossing Optic atrophy Nystagmus Keratoconus Functional respiratory abnormality Hypertrophic cardiomyopathy Macrocephaly Joint stiffness Osteopenia Proptosis Prominent forehead Polyhydramnios Congestive heart failure Kyphosis Respiratory acidosis Small face Unerupted tooth Band keratopathy White eyelashes Tubulointerstitial fibrosis Breast hypoplasia Alopecia totalis Anodontia Choanal stenosis Lipoatrophy High pitched voice Postaxial polydactyly Short neck Clinodactyly of the 5th finger Thrombocytopenia Abnormality of cardiovascular system morphology Short nose Hydrocephalus Ventricular septal defect Gait disturbance Brachydactyly Upslanted palpebral fissure Epicanthus Anemia Muscular hypotonia Generalized hypotonia Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Narrow nasal tip Recurrent infections Brachycephaly Abnormal trabecular bone morphology Microtia Postural instability Neutropenia Leukemia Single transverse palmar crease Downturned corners of mouth Flat face Short palm Developmental regression Dementia Anal atresia Sporadic Hydronephrosis Hypothyroidism Polydactyly Abnormal heart morphology Abnormality of the genital system Carotid artery stenosis Regional abnormality of skin Prolonged QT interval Transient ischemic attack Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Decreased serum estradiol Fragile nails Angina pectoris Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Enlarged joints Down-sloping shoulders Absent eyelashes Short clavicles Exertional dyspnea Keratoconjunctivitis sicca Thin ribs Renal cell carcinoma Thin bony cortex Prolonged prothrombin time Insulin-resistant diabetes mellitus at puberty Bird-like facies Craniofacial disproportion Absence of pubertal development Bilateral coxa valga Reticulated skin pigmentation Hypoplastic facial bones Sinus tachycardia Mitral valve calcification Intermittent claudication Abnormal EKG Absence of subcutaneous fat Premature coronary artery atherosclerosis Thin nail Widely patent fontanelles and sutures Decreased testosterone in males Carcinoid tumor Aplastic clavicle Arteriosclerosis Erysipelas



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