Cryptorchidism, and Ophthalmoplegia

Diseases related with Cryptorchidism and Ophthalmoplegia

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

Top matches:

Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

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

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Other less relevant matches:

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

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

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

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

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

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Ophthalmoplegia

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Cryptorchidism and Ophthalmoplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Polyhydramnios

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Decreased fetal movement Global developmental delay Facial palsy Muscle weakness Cleft palate Generalized muscle weakness Dysphagia Talipes equinovarus Failure to thrive Micrognathia Kyphoscoliosis Motor delay Areflexia Centrally nucleated skeletal muscle fibers External ophthalmoplegia Muscular hypotonia Growth delay Short stature Respiratory insufficiency Narrow face Microcephaly Facial diplegia Congenital hip dislocation Respiratory insufficiency due to muscle weakness Pneumonia Respiratory distress Proximal muscle weakness Joint laxity Waddling gait Progressive muscle weakness Respiratory failure Long face Weak cry

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Hyperlordosis Single transverse palmar crease Talipes Hypoventilation Arthrogryposis multiplex congenita Nocturnal hypoventilation Dolichocephaly Mask-like facies Anteverted nares Pectus excavatum Short neck Tented upper lip vermilion Epicanthus Arachnodactyly Hydronephrosis Paralysis Webbed neck Lumbar hyperlordosis Muscular dystrophy Distal arthrogryposis Recurrent respiratory infections Difficulty running Nemaline bodies Abnormal facial shape Downslanted palpebral fissures Macrocephaly Dilated cardiomyopathy Severe muscular hypotonia Interphalangeal joint contracture of finger Pulmonary hypoplasia Bilateral talipes equinovarus Prominent nasal bridge Type 1 muscle fiber atrophy Pterygium Knee flexion contracture Lower limb muscle weakness Limb muscle weakness Hypertension Apnea Gastroesophageal reflux Thin vermilion border Sleep apnea Calf muscle hypertrophy Bradycardia Ophthalmoparesis Pyloric stenosis Mildly elevated creatine phosphokinase Type 1 muscle fiber predominance Scrotal hypoplasia Exercise-induced myalgia EMG: myopathic abnormalities Cavernous hemangioma Feeding difficulties in infancy Atrial septal defect Pain Pectoralis hypoplasia Congenital facial diplegia Chronic constipation Episodic abdominal pain Hyperparathyroidism Impaired ocular abduction Achalasia Volvulus Peritonitis Ventriculomegaly Aplasia/Hypoplasia of the abdominal wall musculature Barrett esophagus Hypertensive crisis Seizures Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Urethral obstruction Abdominal situs inversus Megacystis Prune belly Microcolon Pollakisuria Urinary retention Aplasia of the pectoralis major muscle Disproportionate tall stature Intestinal pseudo-obstruction Portal hypertension Hydroureter Narrow chest Hypermetropia Vomiting Diarrhea Dilatation Abnormality of cardiovascular system morphology Constipation Abdominal pain Weight loss Umbilical hernia Autistic behavior Low-set, posteriorly rotated ears Joint stiffness Abnormality of the liver Broad forehead Patent ductus arteriosus Strabismus Horseshoe kidney Anonychia Malnutrition Intestinal obstruction Aplasia/Hypoplasia of the tongue Hypoalbuminemia Pancreatitis Recurrent urinary tract infections Abdominal distention Aganglionic megacolon Overgrowth Intestinal malrotation Abnormality of the dentition Round face Vesicoureteral reflux Glandular hypospadias Gait disturbance Anemia Spherocytosis Plagiocephaly Hemangioma Heterotopia Abnormal lung morphology Atrioventricular block Cholelithiasis Cerebral calcification Neonatal respiratory distress Long fingers Hypokinesia Broad nasal tip Neck muscle weakness Tapered finger Head tremor Diaphragmatic eventration Accelerated skeletal maturation Hepatic hemangioma Short nose Depressed nasal bridge Long philtrum Absent speech Hypospadias Elevated serum creatine phosphokinase Respiratory failure requiring assisted ventilation Fractures of the long bones Birth length greater than 97th percentile Hyperhidrosis Slender toe Premature adrenarche Retrognathia Abnormal cardiac septum morphology Cranial nerve paralysis Nephrocalcinosis Laryngeal stenosis Trismus Myopia Oculomotor nerve palsy Hypoplasia of the musculature Brachydactyly Ulnar deviation of the hand Fatigue Abnormality of the larynx Hydrocephalus Midface retrusion Mandibular prognathia Dyspnea Villous atrophy High forehead Flushing Inability to walk Relative macrocephaly Hypoplasia of the brainstem EMG abnormality Decreased liver function Nephrolithiasis Hepatitis Hip dysplasia Dental malocclusion Aplasia/Hypoplasia of the cerebellum Abnormal bleeding Restrictive ventilatory defect Ulnar deviation of finger Glossoptosis Ankylosis Pierre-Robin sequence Microglossia Myotonia Low-set ears Fever Neonatal asphyxia Syndactyly Intellectual disability, mild Hearing impairment Sleepy facial expression Abnormality of the foot musculature Macrocephaly at birth Proximal muscle weakness in upper limbs Deeply set eye Proximal muscle weakness in lower limbs Restrictive deficit on pulmonary function testing Areflexia of lower limbs Malignant hyperthermia Drowsiness Thin ribs Clinodactyly of the 5th finger Camptodactyly Generalized amyotrophy Bifid uvula Decreased muscle mass Overlapping toe Abnormal vertebral morphology Short phalanx of finger Dandy-Walker malformation Limitation of joint mobility Triangular face Protruding ear Abnormality of skin pigmentation Facial asymmetry Abnormality of the foot Finger syndactyly Camptodactyly of finger Retinopathy Muscle fibrillation Large for gestational age Submucous cleft hard palate Cardiac arrest Tongue fasciculations Hypothermia Cardiorespiratory arrest Stridor Abnormality of the voice Abnormal autonomic nervous system physiology Ambiguous genitalia Abnormal pattern of respiration Hypoplasia of penis Abnormality of the eye Myoclonus Hyporeflexia Arrhythmia Abnormality of metabolism/homeostasis Ambiguous genitalia, male Testicular dysgenesis Skeletal muscle hypertrophy Falls Easy fatigability Delayed gross motor development Spontaneous abortion Frequent falls Open mouth Urinary incontinence Peripheral axonal neuropathy Bronchospasm Myalgia Difficulty walking Pes cavus Staccato cry Dysplastic testes Partial development of the penile shaft Laryngospasm Cutaneous finger syndactyly Thoracolumbar scoliosis Peripheral neuropathy Congenital muscular dystrophy Bell-shaped thorax Severe postnatal growth retardation Cystic hygroma Myopathic facies Increased variability in muscle fiber diameter Bilateral cryptorchidism Akinesia Shoulder girdle muscle weakness Hydrops fetalis Cyanosis Aciduria Respiratory tract infection Micropenis Clinodactyly Fetal akinesia sequence Increased connective tissue Edema Muscle fiber hypertrophy Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Internally nucleated skeletal muscle fibers Axial muscle weakness Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Kyphosis Hypertelorism Down-sloping shoulders Poor suck Cardiomyopathy Fatigable weakness of bulbar muscles Flexion contracture of finger Reduced vital capacity Ankle contracture Hip contracture Reduced tendon reflexes Osteopenia Scapular winging Elbow flexion contracture Camptodactyly of toe Ulnar deviation of the hand or of fingers of the hand Decreased hip abduction Abnormality of the rib cage Diabetes mellitus Muscular hypotonia of the trunk Type 1 fibers relatively smaller than type 2 fibers Bulbar palsy Postprandial hyperglycemia Spinal deformities Abnormal glucose tolerance Limb joint contracture Insulin-resistant diabetes mellitus Glycosuria Multiple joint contractures Hirsutism Glucose intolerance Hyperglycemia Hyperinsulinemia Infantile muscular hypotonia Insulin resistance Clumsiness Atrial fibrillation Coarctation of aorta


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