Myopathy, and Hypoplasia of penis

Diseases related with Myopathy and Hypoplasia of penis

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


Top matches:

Medium match X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME


X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME Is also known as xq28 contiguous gene deletion syndrome

Related symptoms:

  • Myopathy
  • Hypospadias
  • Micropenis
  • Bifid scrotum


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Medium match NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME


Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Medium match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Medium match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Medium match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Medium match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Medium match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Top 5 symptoms//phenotypes associated to Myopathy and Hypoplasia of penis

Symptoms // Phenotype % cases
Micropenis Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Hypoplasia of penis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Scoliosis Growth delay Areflexia Generalized muscle weakness Cleft palate Seizures Muscular dystrophy Facial palsy Hypospadias Microcephaly Low-set ears Respiratory insufficiency Hypertelorism Muscular hypotonia Hyporeflexia Kyphosis Severe short stature Long philtrum Growth hormone deficiency Skeletal muscle atrophy Hypoplasia of the corpus callosum Strabismus Congenital muscular dystrophy Ventriculomegaly Motor delay Neonatal hypotonia Proximal muscle weakness Global developmental delay Arthrogryposis multiplex congenita Hyperlordosis Decreased fetal movement Congenital contracture Microphthalmia Intrauterine growth retardation Myopathic facies Short neck Short stature

Rare Symptoms - Less than 30% cases


Feeding difficulties Anophthalmia Tented upper lip vermilion EMG: myopathic abnormalities Akinesia Talipes equinovarus Agenesis of corpus callosum High palate Edema Respiratory failure Cleft lip Coloboma Polyhydramnios Cerebellar hypoplasia Elevated serum creatine phosphokinase Multiple joint contractures Hydrops fetalis Cleft upper lip Severe muscular hypotonia Short nose Fetal akinesia sequence Iris coloboma Pterygium Nemaline bodies Ptosis Micrognathia Retinopathy Respiratory insufficiency due to muscle weakness Type 1 muscle fiber predominance Adducted thumb Open mouth Cerebellar vermis hypoplasia Dolichocephaly Cystic hygroma Abnormality of the cerebral white matter Dilatation Downslanted palpebral fissures Recurrent respiratory infections Bifid uvula Failure to thrive in infancy Panhypopituitarism Specific learning disability Posteriorly rotated ears Corneal opacity Ambiguous genitalia Cyanosis Feeding difficulties in infancy Failure to thrive Frontal bossing Abnormal facial shape Cognitive impairment Myopia Abnormality of metabolism/homeostasis Bifid scrotum Intellectual disability, severe Dandy-Walker malformation Chorioretinal dysplasia Retinal detachment Microcornea Encephalocele Abnormal lactate dehydrogenase activity Intellectual disability, profound Pachygyria Renal dysplasia Heterotopia Thick cerebral cortex Retinal dystrophy Hypoplastic male external genitalia Polymicrogyria Aplasia/Hypoplasia involving the skeletal musculature Oral cleft Anal atresia Abnormal aldolase level Congenital cataract Microtia Protruding ear Hydronephrosis Proptosis Glaucoma Macrogyria Aqueductal stenosis Lissencephaly Bilateral cleft lip Peters anomaly Buphthalmos Muscle fiber splitting Abnormality of the optic nerve Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Abnormal cortical gyration Agyria Excessive daytime sleepiness Remnants of the hyaloid vascular system Posterior fossa cyst Retinal dysplasia Megalocornea Optic nerve hypoplasia Retinal atrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Congenital glaucoma Meningoencephalocele Abnormality of neuronal migration Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Hypoplasia of the brainstem Metatarsus valgus Severe hydrocephalus Atresia of the external auditory canal Spinal rigidity Dysarthria Bilateral cryptorchidism Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Difficulty running Centrally nucleated skeletal muscle fibers Increased variability in muscle fiber diameter Mask-like facies Shoulder girdle muscle weakness Scrotal hypoplasia External ophthalmoplegia Narrow face Bradycardia Aciduria Webbed neck Facial diplegia Exercise-induced myalgia Pulmonary hypoplasia Internally nucleated skeletal muscle fibers Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Type 1 muscle fiber atrophy Increased connective tissue Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Single transverse palmar crease Ophthalmoplegia Dysphagia Waddling gait Pericardial effusion Mildly elevated creatine phosphokinase Rocker bottom foot Foot dorsiflexor weakness Large fontanelles Frequent falls Inability to walk Hydrocephalus Falls Talipes Limb muscle weakness Distal muscle weakness Abnormality of the eye Apnea Bulbar palsy EMG: neuropathic changes Prominent nasal bridge Late-onset distal muscle weakness Respiratory tract infection Joint laxity Kyphoscoliosis Pneumonia Clinodactyly Respiratory distress Mitochondrial depletion Slender build Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Multiple pterygia Hand clenching Neck flexor weakness Abnormality of the rib cage Blindness Depressed nasal bridge Optic atrophy Cerebral cortical atrophy Skeletal muscle hypertrophy Left ventricular hypertrophy Ventricular hypertrophy Pigmentary retinopathy Macroglossia Hip dislocation Abnormal heart morphology Abnormality of the periventricular white matter Hypothalamic luteinizing hormone-releasing hormone deficiency Lumbar kyphosis Pituitary dwarfism Thoracolumbar kyphoscoliosis Abnormal anterior horn cell morphology Prolactin deficiency Calf muscle hypertrophy Left ventricular systolic dysfunction Gonadotropin deficiency Wide intermamillary distance Thickened nuchal skin fold Proximal placement of thumb Spinal muscular atrophy Abnormality of the fingernails Bilateral single transverse palmar creases Interphalangeal joint contracture of finger Narrow chest Wide nasal bridge Camptodactyly of finger Joint stiffness Macrotia Inguinal hernia Hernia Gait disturbance Anterior pituitary hypoplasia Adrenocorticotropic hormone deficiency Degeneration of anterior horn cells Secondary amenorrhea Metabolic alkalosis Alkalosis Adrenal hyperplasia Hyperaldosteronism Male pseudohermaphroditism Increased circulating cortisol level Hypokalemia Decreased circulating renin level Accelerated skeletal maturation Gynecomastia Primary amenorrhea Amenorrhea Headache Hypertension Perineal hypospadias Congenital adrenal hyperplasia Pituitary hypothyroidism Carious teeth Thoracic kyphosis Hypopituitarism Hyperextensible skin Increased body weight Small nail Joint hypermobility Jaundice Female pseudohermaphroditism Skeletal dysplasia Abnormality of the skeletal system Delayed speech and language development Sensorineural hearing impairment Hearing impairment Adrenogenital syndrome Hypokalemic alkalosis Tongue fasciculations Microphallus Macrocephaly Postnatal growth retardation Short foot Small hand Short palm Thin vermilion border Astigmatism Small for gestational age Low-set, posteriorly rotated ears Convex nasal ridge Muscular hypotonia of the trunk Deeply set eye Thin upper lip vermilion High forehead Hypogonadism Prominent forehead Delayed myelination Hypocalcemia Abnormality of the dentition Tetany Cataract Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Decreased circulating cortisol level Recurrent bacterial infections Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Delayed skeletal maturation Midnasal stenosis Skin dimples Premature birth Holoprosencephaly Choanal atresia Depressed nasal ridge Hypotelorism Tetralogy of Fallot Renal agenesis Ectodermal dysplasia Anosmia Asthma Short philtrum Hypothyroidism Intellectual disability, mild Anteverted nares Proximal spinal muscular atrophy Hemangioma Precocious puberty Pyriform aperture stenosis Abnormality of the nasopharynx Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Semilobar holoprosencephaly Cyclopia Single median maxillary incisor Narrow nasal bridge Nasal obstruction Hyposmia Abnormality of chromosome segregation Duodenal atresia Maternal diabetes Median cleft lip Hamartoma Type 1 and type 2 muscle fiber minicore regions



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