Skeletal muscle atrophy, and Sparse scalp hair

Diseases related with Skeletal muscle atrophy and Sparse scalp hair

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


Top matches:

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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Other less relevant matches:

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

Low match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match COFFIN-SIRIS SYNDROME 3; CSS3


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Low match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Sparse scalp hair

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Depressed nasal bridge Abnormal facial shape Visual impairment Microcephaly High palate Sparse hair Osteoporosis Long eyelashes Cataract Thick eyebrow Anteverted nares Wide mouth Macroglossia Scoliosis Alopecia Cryptorchidism Growth delay Lipodystrophy Hypertelorism Muscular hypotonia Flexion contracture Motor delay Agenesis of corpus callosum Epicanthus Wide nasal bridge Hypertrichosis Micrognathia Abnormality of the dentition High forehead Failure to thrive Frontal bossing Pectus excavatum Nystagmus Narrow mouth Proptosis Scarring Abnormality of skin pigmentation Diabetes mellitus Behavioral abnormality Ataxia Pain Neoplasm Progeroid facial appearance Peripheral neuropathy Hypoplasia of the corpus callosum Short distal phalanx of finger Feeding difficulties Hypogonadism Rod-cone dystrophy Ptosis Retinal degeneration Delayed skeletal maturation Coarse facial features Aplasia/Hypoplasia of the distal phalanges of the hand Abnormal corpus callosum morphology Wide nose Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Hypergonadotropic hypogonadism Intrauterine growth retardation Dermal atrophy Widely spaced teeth Sparse eyebrow Bilateral cryptorchidism Short clavicles Atherosclerosis Microphthalmia Insulin resistance Nephropathy Joint stiffness Hyperkeratosis High pitched voice Generalized osteoporosis Hypertension Hirsutism Rocker bottom foot Premature loss of teeth Delayed eruption of teeth Thick lower lip vermilion Cutis laxa Myopathy Intellectual disability, severe Short nose Abnormality of the skeletal system Hypospadias Postnatal growth retardation Osteolysis Downslanted palpebral fissures Insulin-resistant diabetes mellitus Thick vermilion border Prematurely aged appearance Brachydactyly Otitis media Constipation Deeply set eye Macrotia Narrow nasal ridge Anemia Depressivity Posteriorly rotated ears Pulmonary artery stenosis Abnormal heart morphology Dandy-Walker malformation Convex nasal ridge Hernia Progressive gait ataxia Gynecomastia Nevus Bifid uvula Narrow chest Broad forehead Pectus carinatum Telecanthus Skeletal dysplasia Delayed puberty Osteopenia Cleft palate Low-set ears Macrocephaly Prominent forehead Short neck Intellectual disability, mild Midface retrusion Distal amyotrophy Pulmonic stenosis Fine hair Gait ataxia Muscle weakness Thin skin Cognitive impairment Hypothyroidism Micropenis Severe short stature Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Bone cyst Ectopic calcification Recurrent ear infections Posterior scalloping of vertebral bodies Tics Autism Dystrophic fingernails Broad face Thoracic kyphosis Poor coordination Irregular vertebral endplates Tracheal stenosis Torus palatinus Atypical absence seizures Absent facial hair Brachycephaly Babinski sign Recurrent infections Delayed speech and language development Lacrimal duct aplasia Delayed eruption of permanent teeth Submucous cleft hard palate Cerebellar hypoplasia Pes cavus Pulmonary artery sling Large basal ganglia Misalignment of teeth Drowsiness External ear malformation Abnormal eyebrow morphology Low hanging columella Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Chronic constipation Striae distensae Restlessness Congenital hypothyroidism Hip contracture Protruding ear Hip dysplasia Broad hallux phalanx Hypoplasia of the maxilla Neurodegeneration Downturned corners of mouth Genu valgum Synophrys Congenital cataract Prominent nasal bridge Abnormal pyramidal sign Developmental regression Cerebral calcification Aggressive behavior Conductive hearing impairment Generalized muscle hypertrophy Broad columella Esodeviation Prominent nasal tip Broad eyebrow Subglottic stenosis Uplifted earlobe Deep plantar creases Abnormal eye morphology Bradykinesia Happy demeanor Melanocytic nevus Sparse body hair Basal ganglia calcification Abnormality of the gastrointestinal tract Abnormal morphology of the hippocampus Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Abnormality of the pinna Self-injurious behavior Large earlobe Schizophrenia Bruxism Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Clonus Thickened skin Abnormal form of the vertebral bodies Coarctation of aorta Absent fifth toenail Poor speech Strabismus Cerebral cortical atrophy Patent ductus arteriosus Absent speech Dilatation Syndactyly Diarrhea Vomiting Atrial septal defect Ventriculomegaly Ventricular septal defect Fever Pointed chin Hydronephrosis Absence seizures Cutaneous syndactyly Absence of renal corticomedullary differentiation Aplasia/Hypoplasia of the corpus callosum Drooling Abnormality of the genitourinary system Short proximal phalanx of finger Poor suck Aplasia of the middle phalanx of the hand Frontal upsweep of hair Pyloric stenosis Mandibular prognathia Anxiety Pyelonephritis Tapered finger Dehydration Tetralogy of Fallot Febrile seizures Open mouth Focal-onset seizure Esotropia Recurrent otitis media Abnormality of the genital system Vesicoureteral reflux Brain atrophy Abdominal distention Everted lower lip vermilion Coloboma Iris coloboma Falls Cleft upper lip Abnormality of the cerebral white matter Neurological speech impairment Aganglionic megacolon Finger syndactyly Postnatal microcephaly Short philtrum Camptodactyly of finger Abnormal cardiac septum morphology Accessory oral frenulum Hypoplasia of the capital femoral epiphysis Highly arched eyebrow Upslanted palpebral fissure Retinal dystrophy Postaxial polydactyly Oral cleft Stage 5 chronic kidney disease Smooth philtrum Craniosynostosis Ectopic kidney Low-set, posteriorly rotated ears Cleft lip Umbilical hernia Polydactyly Supernumerary nipple Renal cyst Pneumonia Visual loss Renal insufficiency Respiratory insufficiency Hepatomegaly Absent fifth fingernail Sloping forehead Prominent interphalangeal joints Shortening of all distal phalanges of the fingers Low anterior hairline Small nail Hallux valgus Microdontia Pancreatic cysts Short thorax Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Aplasia/Hypoplasia of the cerebellum Short femoral neck Narrow forehead Cone-shaped epiphysis Trigonocephaly Bifid scrotum Short ribs Wide anterior fontanel Hepatic fibrosis Exotropia Short phalanx of finger Recurrent urinary tract infections Renal dysplasia Cholestasis Cupped ear Areflexia Hyperglycemia Malar flattening Forearm undergrowth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Absent earlobe Talipes equinovalgus Ulnar bowing Palmoplantar cutis gyrata Dermal translucency Long toe Poor wound healing Small face Varicose veins Mild global developmental delay Periodontitis Atypical scarring of skin Gingivitis Genu recurvatum Proportionate short stature Abnormality of primary teeth Congestive heart failure Atrophic scars Abnormality of the hair Abnormality of the voice Sarcoma Laryngomalacia Breast carcinoma Melanoma Macular degeneration Type I diabetes mellitus Spontaneous abortion Hoarse voice Increased bone mineral density Narrow face Skin ulcer Carcinoma Abnormality of retinal pigmentation Decreased body weight Myocardial infarction Type II diabetes mellitus Decreased testicular size Chest pain Coma Hypopigmentation of the skin Small hand Leukemia Retinopathy Curly hair Bowing of the legs Polydipsia Hypoplasia of penis Long eyebrows Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Retinal atrophy Chorioretinal atrophy Sensory axonal neuropathy Hypogonadotrophic hypogonadism Horizontal nystagmus Clumsiness Pigmentary retinopathy Talipes equinovarus Growth hormone deficiency Progressive cerebellar ataxia Peripheral axonal neuropathy Paraplegia Spastic paraplegia Small for gestational age Distal muscle weakness Pallor Hypoglycemia Obesity Cerebellar atrophy Central heterochromia Kyphoscoliosis Elbow dislocation Blue sclerae Radioulnar synostosis Hyperextensible skin Sparse eyelashes Accelerated skeletal maturation Joint dislocation Coxa valga Elbow flexion contracture Aortic valve stenosis Sparse and thin eyebrow Bowing of the long bones Cutaneous photosensitivity Congenital diaphragmatic hernia Pes planus Triangular face Single transverse palmar crease Bruising susceptibility Flat face Joint hypermobility Arachnodactyly Joint hyperflexibility Hypermetropia Microtia Joint laxity Abnormality of the nervous system Myelodysplasia Abnormality of the thorax Kyphosis Absent eyebrow Osteolytic defects of the phalanges of the hand Down-sloping shoulders Narrow nose Arthropathy Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Congenital muscular dystrophy Calcinosis Glomerulosclerosis Hyperinsulinemia Hyperlipidemia Acanthosis nigricans Wormian bones Increased body weight Hyperpigmentation of the skin Dental crowding Large fontanelles Hypertriglyceridemia Epidermal acanthosis Vertebral compression fractures Prominent superficial veins Abnormality of the cardiovascular system Thin clavicles Hypertonia Hydrocephalus Gait disturbance Thick nasal alae Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Increased adipose tissue around the neck Hypoplasia of teeth Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Broad distal phalanx of finger Nephrotic syndrome Abnormality of the skin Polyuria Alopecia of scalp Abnormality of the testis Pili torti Chondrocalcinosis Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Posterior subcapsular cataract Neoplasm of the lung Subcapsular cataract White forelock Ovarian neoplasm Secondary amenorrhea Myeloid leukemia Scleroderma Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Polyphagia Premature graying of hair Squamous cell carcinoma Slender build Thyroid carcinoma Dental malocclusion Acral lentiginous melanoma Round face Full cheeks Sepsis Hypotrichosis Nail dystrophy Muscular dystrophy Paralysis Proximal muscle weakness Rigidity Retrognathia Edema Aplasia/Hypoplasia of the testes Enlarged joints Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Poliosis Abnormal hair whorl Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Arteriosclerosis Aplasia/Hypoplasia of the cerebral white matter



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Camptodactyly of finger, related diseases and genetic alterations Arthritis and Syncope, related diseases and genetic alterations Rod-cone dystrophy and Migraine, related diseases and genetic alterations

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