Muscle weakness, and Arachnodactyly

Diseases related with Muscle weakness and Arachnodactyly

In the following list you will find some of the most common rare diseases related to Muscle weakness and Arachnodactyly that can help you solving undiagnosed cases.


Top matches:

Medium match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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Other less relevant matches:

Low match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Low match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Low match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Top 5 symptoms//phenotypes associated to Muscle weakness and Arachnodactyly

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Joint hypermobility Hernia Respiratory insufficiency Talipes equinovarus Mitral valve prolapse Intellectual disability Hyperextensible skin Bruising susceptibility Joint laxity Kyphoscoliosis Motor delay Muscular hypotonia Dolichocephaly Camptodactyly High, narrow palate Long face Pain Strabismus Cryptorchidism Respiratory distress Narrow face Respiratory failure Joint dislocation Global developmental delay Abnormal facial shape Microcornea Downslanted palpebral fissures Single transverse palmar crease Dental crowding Blue sclerae Inguinal hernia Brachycephaly Arthralgia Generalized muscle weakness Telecanthus Retrognathia Scarring Skeletal muscle atrophy Areflexia Congestive heart failure Thin skin Retinal detachment Short stature Glaucoma Pectus excavatum Hypertelorism Feeding difficulties Peripheral neuropathy Abnormality of the skeletal system Joint contracture of the hand Pes planus Decreased fetal movement Talipes Arthrogryposis multiplex congenita Arrhythmia Atrophic scars

Rare Symptoms - Less than 30% cases


Epicanthus Fatigue Abnormality of the sternum Soft skin Micrognathia Endocarditis Mandibular prognathia Spina bifida Depressed nasal bridge Dyspnea Joint hyperflexibility Gastrointestinal hemorrhage Edema Hiatus hernia Spina bifida occulta Stroke Osteopenia Kyphosis Heart murmur Pectus carinatum Sleep apnea Polyneuropathy Dilatation Esotropia Overgrowth High myopia Tall stature Nephrolithiasis Dental malocclusion Abnormal bleeding Aortic regurgitation Apnea Aortic aneurysm Disproportionate tall stature Congenital contracture Gait disturbance Slender finger Aortic root aneurysm Aortic dissection Generalized joint laxity Growth delay Lipodystrophy Insulin resistance Sepsis Exotropia Hyperlordosis Narrow palate Short philtrum Blepharophimosis Dural ectasia Pneumothorax Hip dysplasia Long philtrum Hypoplasia of the musculature Sensory neuropathy Inability to walk Peripheral axonal neuropathy Fragile skin Bilateral talipes equinovarus Unsteady gait Adducted thumb Mitral regurgitation Thin upper lip vermilion Protruding ear Myalgia Midface retrusion Narrow mouth Small for gestational age Distal arthrogryposis Cardiomegaly Polyhydramnios Neonatal hypotonia Subcutaneous hemorrhage Atypical scarring of skin Horseshoe kidney Abnormality of cardiovascular system morphology Malar flattening Cataract Progressive congenital scoliosis Low anterior hairline Large fontanelles Bladder diverticulum Wrist drop Premature rupture of membranes Lens luxation Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Thoracic kyphoscoliosis Keloids Cutis laxa Recurrent urinary tract infections Arterial dissection Moderate myopia Palmoplantar cutis laxa Microretrognathia Increased axial length of the globe Keratoconus Prominent forehead Dermal translucency Retinopathy Abnormal anterior chamber morphology Flat forehead Talipes valgus Osteoporosis Decreased palmar creases Diastasis recti Abnormality of metabolism/homeostasis Hyperalgesia Blindness Visual impairment Low-set ears Hepatic hemangioma Respiratory failure requiring assisted ventilation Ecchymosis Low hanging columella Recurrent skin infections Cerebral hemorrhage Pterygium Abnormality of the hip bone Bilateral cryptorchidism Visual loss Intracranial hemorrhage Corneal dystrophy Torticollis Abnormality of the coagulation cascade Abnormality of the mouth Hyperbilirubinemia Increased body weight Delayed cranial suture closure Recurrent pneumonia Prolonged bleeding time Oligohydramnios Absent septum pellucidum Clinodactyly Abnormality of the cardiovascular system Pes cavus Pulmonary edema Slender toe Cleft palate Ventriculomegaly Short neck Homocystinuria Low back pain Atrial septal defect Ascending tubular aorta aneurysm Short nose Spondylolisthesis Constipation Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Hearing impairment Overbite Arachnoid cyst Hypopnea Overjet Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Premature osteoarthritis Inferior oblique muscle overaction Protrusio acetabuli Tricuspid valve prolapse Incisional hernia Pulmonary artery dilatation Thoracic aortic aneurysm Mitral annular calcification Medial rotation of the medial malleolus Meningocele Hypoplasia of the iris Gastroesophageal reflux Nephrotic syndrome Back pain Thick eyebrow Spontaneous abortion Elbow flexion contracture Tapered finger Intestinal malrotation Amblyopia Ectopia lentis Decreased body weight Abnormal lung morphology Anisometropia Chest pain Coarctation of aorta Deeply set eye Redundant skin Facial asymmetry Subarachnoid hemorrhage Umbilical hernia Megalocornea Dilatation of the cerebral artery Striae distensae Posteriorly rotated ears Reduced subcutaneous adipose tissue Restrictive ventilatory defect Decreased muscle mass Hammertoe Open bite Emphysema Large for gestational age Hydronephrosis Rocker bottom foot Broad forehead Epiphora Birth length greater than 97th percentile Postprandial hyperglycemia Premature adrenarche Lipoatrophy Arthritis Proximal muscle weakness Abnormality of the Leydig cells Clubbing of toes Erythema nodosum Clubbing of fingers Episodic fever Microcytic anemia Vesicoureteral reflux Elevated erythrocyte sedimentation rate Increased antibody level in blood Right bundle branch block Hyperostosis Subcutaneous nodule Abnormality of the face Thick lower lip vermilion Prominent nose Bifid uvula Ambiguous genitalia Lymphadenopathy Poor wound healing Microcephaly Quadricuspid aortic valve Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Muscle fiber splitting Rheumatoid arthritis Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Adrenal hypoplasia Unilateral renal agenesis Psoriasiform dermatitis Macroglossia Skin rash Neoplasm Dysarthria Sandal gap Broad-based gait Dysmetria Abnormality of the foot Distal muscle weakness Difficulty walking Wide nasal bridge Cognitive impairment Impaired vibratory sensation Ataxia Oval face Overlapping fingers Fetal akinesia sequence Scaphocephaly Akinesia Poor suck Respiratory insufficiency due to muscle weakness Poor head control Sensory axonal neuropathy Abnormal pyramidal sign Patent foramen ovale Joint stiffness Macrotia Hyperhidrosis Splenomegaly Intellectual disability, mild Fever Hepatomegaly Facial hypotonia Delayed gross motor development Myopathic facies Cerebral atrophy Frontal bossing Impaired tactile sensation Sensory ataxia Impaired proprioception Delayed ability to walk Narrow nasal bridge Long nose Nystagmus Failure to thrive Nocturnal hypoventilation Lower limb muscle weakness Accelerated skeletal maturation Nephrocalcinosis EMG abnormality Decreased liver function Progressive muscle weakness Hepatitis Waddling gait Limb muscle weakness External ophthalmoplegia Ophthalmoplegia Paralysis Facial palsy High forehead Hydrocephalus Dysphagia Macrocephaly Anemia Severe muscular hypotonia Hemangioma Seizures Centrally nucleated skeletal muscle fibers Fractures of the long bones Cavernous hemangioma Diaphragmatic eventration Spherocytosis Head tremor Facial diplegia Hypoventilation Neck muscle weakness Weak cry Atrioventricular block Hypokinesia Long fingers Mask-like facies Neonatal respiratory distress Myotonia Ophthalmoparesis Pyloric stenosis Cholelithiasis Ptosis Onychauxis Optic atrophy Abdominal distention Acanthosis nigricans Preauricular skin tag Hypertrichosis Short palpebral fissure Epidermal acanthosis Microdontia Specific learning disability Hirsutism Precocious puberty Thin vermilion border Dry skin Smooth philtrum Wide mouth Hypoglycemia Coarse facial features Upslanted palpebral fissure Abnormality of the dentition Hyperinsulinemia Clitoral hypertrophy Abnormality of upper lip Fasting hypoglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Thick nail Hyperglycemia Abnormality of the optic nerve Long foot Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Ovarian neoplasm Flat occiput Absent eyebrow Abnormality of the duodenum



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