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.
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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
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
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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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
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
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
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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