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 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.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

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:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

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Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

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

Related symptoms:

  • Hypotrichosis
  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

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

Related symptoms:

  • Scoliosis
  • Cataract
  • Flexion contracture
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EEM SYNDROME

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

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

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases
Cataract 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


Flexion contracture Hypertension Neoplasm Abnormality of the dentition Palmoplantar keratoderma Hearing impairment Micrognathia Short nose Osteoporosis Convex nasal ridge Narrow mouth Delayed puberty Nail dystrophy Hypertriglyceridemia Thin skin Hyperinsulinemia Absent eyebrow Prematurely aged appearance Osteolytic defects of the phalanges of the hand Failure to thrive Limitation of joint mobility Lack of skin elasticity Nail dysplasia Dry skin Prominent superficial veins Scarring Erythema Edema

Rare Symptoms - Less than 30% cases


Osteolysis Bird-like facies Aplasia/Hypoplasia of the skin Sparse scalp hair Epidermal acanthosis Abnormality of the cardiovascular system Absent eyelashes Fragile nails Dementia Malar flattening Abnormality of skin pigmentation Sparse body hair Sparse hair Microdontia Joint stiffness Short clavicles Lipoatrophy Scoliosis Dental crowding Proptosis Narrow nasal ridge Insulin-resistant diabetes mellitus Down-sloping shoulders Progeroid facial appearance High pitched voice Strabismus Hyperglycemia Generalized lipodystrophy Insulin resistance Lipodystrophy Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Increased bone mineral density Intellectual disability Microtia Conductive hearing impairment Decreased fertility Premature ovarian insufficiency Generalized hypotonia Progressive clavicular acroosteolysis Thin vermilion border Short palm Subungual hyperkeratosis Thrombocytosis Hepatic steatosis Erythroderma Growth delay Ectropion Neoplasm of the skin Sparse and thin eyebrow Type II diabetes mellitus Decreased body weight Abnormality of retinal pigmentation Aortic valve stenosis Abnormality of the thorax Palmoplantar hyperkeratosis Premature graying of hair Hyperhidrosis Congestive heart failure Abnormality of the skeletal system Abnormal facial shape Diabetes mellitus Carious teeth Hypogonadism Pain Ectodermal dysplasia Arteriosclerosis of small cerebral arteries Muscular hypotonia Tapering pointed ends of distal finger phalanges Recurrent infections Global developmental delay Brachycephaly Hydrocephalus Abnormality of cardiovascular system morphology Upslanted palpebral fissure Brachydactyly Cognitive impairment Clinodactyly of the 5th finger Thrombocytopenia Abnormal heart morphology Short neck Gait disturbance Anemia Depressed nasal bridge Myopia Obesity Epicanthus Regional abnormality of skin Retinopathy Abnormal trabecular bone morphology Transient ischemic attack Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Angina pectoris Ovoid vertebral bodies Hyperphosphatemia Desquamation of skin soon after birth Abnormal EKG Decreased serum estradiol Alopecia of scalp Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Scleroderma Exertional dyspnea Prolonged QT interval Multiple joint contractures Heart murmur Thin bony cortex Prolonged prothrombin time Insulin-resistant diabetes mellitus at puberty Parietal bossing Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Mitral valve calcification Widely patent fontanelles and sutures Carcinoid tumor Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Arteriosclerosis Polydactyly Macroglossia Hypothyroidism Abnormality of the fontanelles or cranial sutures Selective tooth agenesis Visual loss Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Everted lower lip vermilion Left-to-right shunt Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Eosinophilia Hypoxemia Ectrodactyly Macular dystrophy Senile plaques Fingernail dysplasia Abnormality of the eye Finger syndactyly Split hand Syndactyly Joint contracture of the hand Congenital alopecia totalis Sclerodactyly Trichodysplasia Leukonychia Abnormality of dental morphology Trichorrhexis nodosa Amniotic constriction ring Dystrophic fingernails Brittle hair Sparse eyelashes Macular degeneration Widely spaced teeth Abnormality of vision Acute megakaryocytic leukemia Acute monocytic leukemia Hypoplastic iliac wing Umbilical hernia Neutropenia Narrow palate Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Depressed nasal ridge Thick lower lip vermilion Camptodactyly Postural instability Single transverse palmar crease Renal hypoplasia/aplasia Downturned corners of mouth Postaxial polydactyly Eclabion Flat face Anal atresia Leukemia Developmental regression Joint laxity Hydronephrosis Sandal gap Breast carcinoma Anhidrosis Impaired pain sensation Double outlet right ventricle Thickened nuchal skin fold Congenital ichthyosiform erythroderma Acute lymphoblastic leukemia Protruding tongue Polycythemia Neurofibrillary tangles Congenital hypothyroidism Abnormality of immune system physiology Cholelithiasis Parakeratosis Abnormality of blood and blood-forming tissues Transposition of the great arteries Broad palm Congenital nonbullous ichthyosiform erythroderma Atrioventricular canal defect Hydroureter Intracranial hemorrhage Alzheimer disease Metaphyseal widening Patchy hypo- and hyperpigmentation Nasal speech Large fontanelles Focal segmental glomerulosclerosis Hyperostosis Congenital muscular dystrophy Glomerulosclerosis Wormian bones Increased body weight Hyperpigmentation of the skin Nephrotic syndrome Delayed cranial suture closure Abnormality of the skin Dental malocclusion Round face Full cheeks Sepsis Short distal phalanx of finger Muscular dystrophy Paralysis Glucose intolerance Hypermelanotic macule Abnormality of the kidney Breast aplasia Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Wide cranial sutures Reduced subcutaneous adipose tissue Broad distal phalanx of finger Hypoplasia of teeth Calcinosis Vertebral compression fractures Narrow nose Premature loss of teeth Arthropathy Spinal rigidity Postnatal growth retardation Proximal muscle weakness Acroosteolysis of distal phalanges (feet) Folliculitis Splenomegaly Tremor Fever Hepatomegaly Peripheral neuropathy Abnormal perifollicular morphology Sunken cheeks Comedo Follicular hyperkeratosis Weight loss Abnormal eyebrow morphology Atopic dermatitis Epiphora Spinal muscular atrophy Sparse eyebrow Inflammatory abnormality of the skin Papule Arthritis Immunodeficiency Hepatosplenomegaly Rigidity T-cell lymphoma Retrognathia Hypospadias Myopathy High palate Muscle weakness Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology Lichenification Skin rash Abnormality of the pleura Gangrene Irregular hyperpigmentation Thickened skin Abnormality of the face Lymphoma Lymphadenopathy Pruritus Foot pain Abnormality of the fingertips Relative macrocephaly Midface retrusion Stroke Hypertrophic cardiomyopathy Carcinoma Osteopenia Macrotia Dyspnea Prominent forehead Kyphosis Dilated cardiomyopathy Cardiomyopathy Macrocephaly Sensorineural hearing impairment Abnormality of circulating leptin level Sclerosis of hand bone Pectus excavatum Neoplasm of the oral cavity Premature arteriosclerosis Hip dislocation Hypermetropia Neoplasm of the thyroid gland Broad-based gait Hypercholesterolemia Aminoaciduria Coxa valga Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Aspiration Hypohidrosis Left ventricular hypertrophy Osteoarthritis Narrow chest Myocardial infarction Cardiomegaly Cyanosis Growth hormone deficiency Chest pain Hypodontia Delayed eruption of teeth Infertility Intervertebral disc degeneration Subcutaneous calcification Increased facial adipose tissue Narrow face Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Calf muscle hypertrophy Rocker bottom foot Abnormality of the voice Laryngomalacia Reduced bone mineral density Finger clinodactyly Abnormality of the hair Telangiectasia of the skin Skin ulcer Mitral valve prolapse Hip dysplasia Retinal degeneration Congenital cataract Pes planus Stiff elbow Foamy urine Glycosuria Ovarian neoplasm Neoplasm of the small intestine Exercise-induced myalgia Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Abnormal hair quantity Abnormality of the pulmonary artery White forelock Chondrocalcinosis Secondary amenorrhea Abnormality of the testis Pili torti Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Neoplasm of the lung Cicatricial lagophthalmos



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