Myopathy, and Tapered finger

Diseases related with Myopathy and Tapered finger

In the following list you will find some of the most common rare diseases related to Myopathy and Tapered finger that can help you solving undiagnosed cases.

Top matches:

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Other less relevant matches:

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

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

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

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

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

Top 5 symptoms//phenotypes associated to Myopathy and Tapered finger

Symptoms // Phenotype % cases
High palate Very Common - Between 80% and 100% cases
Talipes equinovarus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Tapered finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Decreased fetal movement

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Cryptorchidism Feeding difficulties Intellectual disability Global developmental delay Abnormal facial shape Failure to thrive Skeletal muscle atrophy Dysphagia Ophthalmoplegia Polyhydramnios Respiratory distress Respiratory insufficiency Generalized muscle weakness Areflexia Long fingers Neonatal hypotonia Muscular hypotonia Facial palsy Seizures Growth delay Ptosis Cleft palate Narrow mouth Micrognathia Paralysis Delayed speech and language development Cognitive impairment Facial diplegia Severe muscular hypotonia Hypoventilation Dolichocephaly Pain Kyphosis Respiratory tract infection Respiratory failure Talipes Hypertelorism Camptodactyly Long philtrum Short stature Downslanted palpebral fissures External ophthalmoplegia Hypertension Epicanthus Long face

Rare Symptoms - Less than 30% cases

Micropenis Dyspnea Apnea Diaphragmatic eventration Difficulty running Autism Weight loss Dilatation Midface retrusion Hypogonadism Hyporeflexia Syndactyly Intellectual disability, mild Hernia Inguinal hernia Behavioral abnormality Congestive heart failure Pectus excavatum Downturned corners of mouth Delayed puberty Umbilical hernia Intellectual disability, severe Congenital contracture Ophthalmoparesis Proximal muscle weakness Pes cavus Centrally nucleated skeletal muscle fibers Progressive muscle weakness Respiratory insufficiency due to muscle weakness Clitoral hypoplasia Decreased muscle mass Gowers sign Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Sleep apnea Waddling gait Prune belly Hip dysplasia Dental malocclusion Neonatal respiratory distress Vomiting Protruding ear Bilateral talipes equinovarus Pneumonia Anteverted nares Restrictive ventilatory defect Macrocephaly Hypospadias Nocturnal hypoventilation Gastroesophageal reflux Hydronephrosis Ventriculomegaly Depressed nasal bridge Microcephaly Elevated serum creatine phosphokinase Short nose Myopia Hypoplasia of the musculature Fever Retrognathia Mask-like facies Low-set, posteriorly rotated ears Exostosis of the external auditory canal Abdominal pain Hypokinesia Constipation Abnormality of cardiovascular system morphology Diarrhea Peripheral neuropathy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Axial muscle weakness Type 1 muscle fiber predominance Joint stiffness Abdominal distention Abnormality of the liver Recurrent urinary tract infections Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia Pancreatitis Horseshoe kidney Aganglionic megacolon Prominent nasal bridge Interphalangeal joint contracture of finger Overgrowth Intestinal malrotation Round face Vesicoureteral reflux Weak cry Narrow chest Broad forehead Hip contracture Fractures of the long bones Neck muscle weakness Hyperextensible skin Difficulty walking Cardiomyopathy Dysarthria Facial hypotonia Fragile skin Patent foramen ovale Adducted thumb Birth length greater than 97th percentile Delayed gross motor development Joint dislocation Respiratory failure requiring assisted ventilation Dental crowding Mitral regurgitation Blue sclerae Mitral valve prolapse Feeding difficulties in infancy Hyperlordosis Abnormal heart valve morphology Myotonia Exertional dyspnea Difficulty climbing stairs Head tremor Spherocytosis Generalized amyotrophy Cavernous hemangioma Bilateral ptosis Distal muscle weakness Dysphonia EMG: myopathic abnormalities Premature adrenarche Scapular winging Left ventricular hypertrophy Slender toe Bifid uvula Hydroureter Chronic constipation Disproportionate tall stature Furrowed tongue Lower limb muscle weakness Inability to walk Fused cervical vertebrae Rib fusion Abnormal bleeding Patellar aplasia Male hypogonadism Hepatitis Multiple pterygia Abnormality of the neck Down-sloping shoulders Bruising susceptibility Nephrolithiasis Hypoplastic nipples Dislocated radial head Decreased liver function Vertebral fusion Long clavicles Popliteal pterygium Narrow face Hypoplastic heart Intercrural pterygium Anterior clefting of vertebral bodies Dysplastic patella Anemia Gait disturbance Neck pterygia Axillary pterygium Fatigue Bilateral camptodactyly Limb muscle weakness Antecubital pterygium Cervical C2/C3 vertebral fusion Hydrocephalus Talipes calcaneovalgus Camptodactyly of toe Mandibular prognathia High forehead Kyphoscoliosis Multiple joint contractures Rocker bottom foot Hyperparathyroidism Cholelithiasis Urethral obstruction Megacystis Hemangioma Microcolon Pollakisuria Atrioventricular block Urinary retention Pyloric stenosis Neuroma Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Absence of labia majora Episodic abdominal pain Barrett esophagus Gastrointestinal obstruction EMG abnormality Accelerated skeletal maturation Pterygium Cutaneous syndactyly Aortic regurgitation Abnormal vertebral morphology Abnormality of the genital system Congenital diaphragmatic hernia Nephrocalcinosis Pulmonary hypoplasia Arthrogryposis multiplex congenita Hypoperistalsis Hip dislocation Abnormality of the kidney Conductive hearing impairment Short neck Abnormality of the skeletal system Low-set ears Hearing impairment Megaduodenum Distal arthrogryposis Narrow palm Joint hypermobility Abnormality of the pinna Genu valgum Carious teeth Hypermetropia Pruritus Leukemia Stroke Attention deficit hyperactivity disorder Abnormality of the nervous system Polymicrogyria Hypoglycemia Photophobia Thin upper lip vermilion Osteopenia Hyperactivity Diabetes mellitus Upslanted palpebral fissure Osteoporosis Infertility Short palm Recurrent respiratory infections Specific learning disability Primary amenorrhea Cutaneous photosensitivity Psychosis Type II diabetes mellitus Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Amenorrhea Febrile seizures Small hand Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Hypopigmentation of the skin Sleep disturbance Short foot Prominent forehead Clinodactyly Insulin resistance Heterotopia Ankylosis Glossoptosis Ulnar deviation of finger Aplasia/Hypoplasia of the cerebellum Hypoplasia of the brainstem Relative macrocephaly Cranial nerve paralysis Plagiocephaly Abnormal lung morphology Microglossia Cerebral calcification Broad nasal tip Thin vermilion border Abnormal cardiac septum morphology Hyperhidrosis Absent speech Atrial septal defect Brachydactyly Pierre-Robin sequence Trismus Obesity Impaired ocular abduction Abnormality of the dentition Edema Intrauterine growth retardation Strabismus Neoplasm Nystagmus Pectoralis hypoplasia Congenital facial diplegia Aplasia of the pectoralis major muscle Flushing Hypertensive crisis Glandular hypospadias Aplasia/Hypoplasia of the tongue Laryngeal stenosis Oculomotor nerve palsy Ulnar deviation of the hand Abnormality of the larynx Villous atrophy Clumsiness Bradycardia Scarring Aciduria Single transverse palmar crease High, narrow palate Small for gestational age Abnormality of creatine metabolism Organic aciduria Progressive proximal muscle weakness Language impairment Autistic behavior Akinesia Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Joint contracture of the hand Scaphocephaly Disseminated intravascular coagulation Diaphragmatic paralysis Telecanthus Myalgia Arthralgia Brachycephaly Cerebral atrophy Frontal bossing Increased endomysial connective tissue Respiratory arrest Increased connective tissue Fetal akinesia sequence Bulbar palsy Poor head control Recurrent pneumonia Muscular dystrophy Camptodactyly of finger Encephalopathy Oval face Overlapping fingers Triangular mouth Erysipelas Aortic valve stenosis Emotional lability External genital hypoplasia Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Radial deviation of finger Narrow nasal bridge Hyperinsulinemia Precocious puberty Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Polyphagia Myeloid leukemia Frontal upsweep of hair Hypoplasia of the fovea Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Acrocyanosis Impaired pain sensation Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Pulmonary embolism Striae distensae Hepatic hemangioma


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