Cryptorchidism, and Paralysis

Diseases related with Cryptorchidism and Paralysis

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

Top matches:

Medium match TETRALOGY OF FALLOT

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

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

Other less relevant matches:

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Medium match ROBERTS SYNDROME

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Medium match CODAS SYNDROME

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Paralysis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High palate Atrial septal defect Microcephaly Polyhydramnios Brachydactyly Hydrocephalus Hypospadias Ventricular septal defect Generalized hypotonia Ventriculomegaly Downslanted palpebral fissures Flexion contracture Muscular hypotonia Micrognathia Scoliosis Skeletal dysplasia Macrocephaly Ptosis Talipes equinovarus Kyphoscoliosis Respiratory distress Short neck Low-set ears Hypertelorism Hearing impairment Retrognathia Long philtrum Anteverted nares Epicanthus Cleft palate Abnormal facial shape Failure to thrive Hemangioma Skeletal muscle atrophy Microphthalmia Muscle weakness Subvalvular aortic stenosis Clinodactyly Patent ductus arteriosus Abnormal cardiac septum morphology Corneal opacity Hemiparesis Cataract Clinodactyly of the 5th finger Underdeveloped nasal alae Proptosis

Rare Symptoms - Less than 30% cases

Tetraphocomelia Midface capillary hemangioma Abnormality of the larynx Premature separation of centromeric heterochromatin Absent earlobe Postnatal growth retardation Aplasia of the ulna Wrist flexion contracture Phocomelia Aplasia/Hypoplasia of the cerebellum Long penis Coloboma Short philtrum Hydronephrosis Cranial nerve paralysis Cerebral calcification Talipes Hypotrichosis Rigidity Gastroesophageal reflux Pneumonia Intellectual disability, profound Short nose Aortic valve stenosis Abnormality of the metacarpal bones Hypertension Depressed nasal bridge Capillary hemangioma Eyelid coloboma Pain Low hanging columella Cerebral cortical atrophy Melanoma Nystagmus Malar flattening Thrombocytopenia Posteriorly rotated ears Brachycephaly Glaucoma Strabismus Wormian bones Bowing of the long bones Opacification of the corneal stroma Osteolysis Knee flexion contracture Blue sclerae Cleft upper lip Prominent nasal bridge Sparse hair Abnormality of the face Hemiatrophy Abnormality of the dentition Genu valgum Craniosynostosis Upper limb undergrowth Severe intrauterine growth retardation Coarse facial features Conductive hearing impairment Hypoplasia of the corpus callosum Absent radius Short femoral neck Neoplasm Radial deviation of finger Proximal placement of thumb Delayed speech and language development Wide nose Spasticity Renal cyst Intellectual disability, mild Polycystic kidney dysplasia Clitoral hypertrophy Bilateral talipes equinovarus Dental malocclusion Thin vermilion border Generalized muscle weakness Respiratory insufficiency Myopathy Severe muscular hypotonia Accelerated skeletal maturation Facial palsy Apnea Ophthalmoplegia Abnormality of cardiovascular system morphology Dyspnea Nephrolithiasis Dolichocephaly Decreased fetal movement Inability to walk Hip dysplasia Broad forehead Feeding difficulties Dysphagia Interrupted aortic arch Hypoventilation Hyperventilation Facial diplegia Nocturnal hypoventilation Congestive heart failure Anemia Intrauterine growth retardation Underdeveloped supraorbital ridges Abnormality of the antitragus Alkalosis Dilatation Delayed epiphyseal ossification Bruxism Hypoplastic helices Progressive encephalopathy Squared iliac bones Loss of speech Overweight Hypoplasia of the odontoid process Developmental stagnation Lumbar scoliosis Motor deterioration Vocal cord paresis Intermittent hyperventilation Coronal cleft vertebrae Thin eyebrow Delayed ossification of carpal bones Nonprogressive encephalopathy Pes valgus Short distal phalanx of the thumb Abnormal muscle tone Hypocapnia Respiratory alkalosis Gait apraxia Complete atrioventricular canal defect Prolonged QTc interval Esodeviation Rectovaginal fistula Abnormal T-wave Astrocytosis Midline defect of the nose Bilateral cleft lip Broad skull Thoracic scoliosis Hyperactivity Developmental regression Mental deterioration Muscular hypotonia of the trunk Aggressive behavior Abnormality of the nervous system Anxiety EEG abnormality Autism Gait ataxia Dementia Laryngeal obstruction Constipation Encephalopathy Kyphosis Dystonia Intellectual disability, severe Tremor Ataxia Lipomas of the central neryous system Abnormal cartilage morphology Autistic behavior Wide mouth Prolonged QT interval Progressive neurologic deterioration Alzheimer disease Short humerus Cachexia Cerebral palsy Abnormality of the fingernails Spastic paraparesis Paraparesis Truncal ataxia Postnatal microcephaly Fine hair Camptodactyly of finger Apraxia Generalized-onset seizure Crumpled ear Short foot Thick vermilion border Confusion Abnormality of movement Muscular dystrophy Extrahepatic biliary duct atresia Attention deficit hyperactivity disorder Prominent metopic ridge Myocardial infarction Metaphyseal dysplasia Oligohydramnios Intellectual disability, moderate Horseshoe kidney Elbow flexion contracture Abnormality of the pinna Cafe-au-lait spot Recurrent urinary tract infections Abnormality of the genital system Encephalocele Osteochondrosis Abnormality of the skeletal system Convex nasal ridge Renal agenesis Hip dislocation Abnormality of the kidney Cleft lip Syndactyly Wide nasal bridge Hypermetropia Congenital cataract Delayed skeletal maturation Sensorineural hearing impairment Anal atresia Craniofacial dysostosis Ankle contracture Fibular hypoplasia Bilateral cleft lip and palate Bicornuate uterus Biliary tract abnormality Hand oligodactyly Hydranencephaly Narrow naris Oligodactyly Accessory spleen Eosinophilia Bilateral renal agenesis Triangular mouth Talipes equinovalgus Frontal encephalocele Intermittent thrombocytopenia Cystic hygroma Bilateral radial aplasia Anonychia Enlarged labia minora Joint hyperflexibility Mesomelic arm shortening Atrioventricular canal defect Overfolded helix Radioulnar synostosis Short long bone CNS hypomyelination Hypoplasia of the radius Abnormality of pelvic girdle bone morphology Sandal gap Bilateral ptosis Epiphyseal dysplasia Abnormality of dental morphology Short chin Bilateral single transverse palmar creases Short thumb Shallow orbits Spondyloepiphyseal dysplasia Premature birth Chest pain Falls Hydroureter Finger syndactyly Drooling Abnormality of dental enamel Progressive flexion contractures Abnormality of the upper limb Facial hemangioma Complete duplication of thumb phalanx Flat face Humeroradial synostosis Delayed eruption of teeth Short metacarpal Microdontia Abnormal form of the vertebral bodies Patellar aplasia Fair hair Congenital hip dislocation Omphalocele Hypoplasia of dental enamel External ear malformation Synostosis of carpal bones Abnormality of epiphysis morphology Short phalanx of finger Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Linear hyperpigmentation Tetraplegia Odontoma Fractures of the long bones Tapered finger Hyperhidrosis Elevated serum creatine phosphokinase Absent speech Motor delay Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Cavernous hemangioma Abnormal lung morphology Diaphragmatic eventration Spherocytosis Head tremor Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Long fingers Mask-like facies Neonatal respiratory distress Myotonia Broad nasal tip Heterotopia Pyloric stenosis Hypoplasia of the musculature Renal insufficiency Pectoralis hypoplasia Congenital facial diplegia Impaired ocular abduction Aplasia of the pectoralis major muscle Hypertensive crisis Glandular hypospadias Aplasia/Hypoplasia of the tongue Laryngeal stenosis Oculomotor nerve palsy Ulnar deviation of the hand Plagiocephaly Villous atrophy Flushing Trismus Microglossia Pierre-Robin sequence Ankylosis Glossoptosis Ulnar deviation of finger Restrictive ventilatory defect Hypoplasia of the brainstem Relative macrocephaly Ophthalmoparesis Cholelithiasis Hernia Heart murmur Abnormal nasal morphology Right ventricular failure Breathing dysregulation Pulmonary artery atresia Right ventricular hypertrophy Truncus arteriosus Double outlet right ventricle Poor appetite Polycythemia Preauricular pit Clubbing Overriding aorta Easy fatigability Increased body weight Sinusitis Ventricular hypertrophy Tetralogy of Fallot Cyanosis Pulmonic stenosis Respiratory tract infection Recurrent respiratory infections Abnormal heart morphology Arrhythmia Endocarditis Pulmonary valve atresia Atrioventricular block Long face Sleep apnea External ophthalmoplegia Nephrocalcinosis EMG abnormality Narrow face Decreased liver function Progressive muscle weakness Hepatitis Waddling gait Abnormal bleeding Arachnodactyly Tetralogy of Fallot with absent pulmonary valve Lower limb muscle weakness Limb muscle weakness High forehead Mandibular prognathia Respiratory failure Areflexia Midface retrusion Fatigue Gait disturbance Myopia Absence of the pulmonary valve Recurrent infections Inguinal hernia Neurodevelopmental abnormality Dysphasia Arachnoid cyst Abnormal eyelash morphology Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Hamartoma Absent septum pellucidum Multiple lipomas Cortical dysplasia Aphasia Sclerocornea Lipodystrophy Hemiplegia Mutism Sacral dimple Muscle stiffness Subcutaneous nodule Pulmonary arterial hypertension Coarctation of aorta Dandy-Walker malformation Nevus Iris coloboma Abnormality of the skull Skin tags Neurological speech impairment Abnormal aortic morphology Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Subcutaneous lipoma Tricuspid valve prolapse Epibulbar dermoid Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Visceral angiomatosis Abnormal eyelid morphology Glioma Porencephalic cyst Bone cyst Peripheral pulmonary artery stenosis Craniofacial hyperostosis Astrocytoma Xanthomatosis Hemihypertrophy Echolalia Ectopia pupillae Dysostosis multiplex Papule Retinopathy Osteoporosis Intestinal malrotation Proportionate short stature Dislocated radial head Vertebral fusion Pathologic fracture Delayed cranial suture closure Metatarsus adductus Narrow palpebral fissure Increased bone mineral density Abnormal vertebral morphology Long eyelashes Full cheeks Radial bowing Recurrent fractures Hirsutism Thick eyebrow Joint hypermobility Synophrys Protruding ear Joint laxity Telecanthus Umbilical hernia Osteopenia Narrow mouth Premature loss of teeth Vocal cord paralysis Scarring Bilateral vocal cord paralysis Agenesis of corpus callosum Cerebellar hypoplasia Alopecia Cerebral atrophy Behavioral abnormality Hypertonia Cheyne-Stokes respiration Elongated sella turcica Tall lumbar vertebral bodies Crowded carpal bones Serpentine fibula Foot acroosteolysis Vertebral compression fractures Basilar invagination Cervical instability Basilar impression Large sella turcica Absent frontal sinuses Short nail Platybasia Biconcave vertebral bodies Generalized osteoporosis Large earlobe Osteolytic defects of the phalanges of the hand Absent epiphyses


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