Cryptorchidism, and Mitral valve prolapse

Diseases related with Cryptorchidism and Mitral valve prolapse

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


Top matches:

High match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C


Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

High match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

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Other less relevant matches:

High match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

High match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

High match COHEN SYNDROME


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

High match FRONTOMETAPHYSEAL DYSPLASIA


Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

FRONTOMETAPHYSEAL DYSPLASIA Is also known as fmd

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA

High 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

High 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

High match SHPRINTZEN-GOLDBERG SYNDROME


Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Mitral valve prolapse

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Mitral valve prolapse. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hyperextensible skin

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Muscular hypotonia Low-set ears High palate Talipes equinovarus Atrial septal defect Micrognathia Myopia Pes planus Osteopenia Joint hyperflexibility Arachnodactyly Hernia Global developmental delay Joint laxity Sensorineural hearing impairment Hearing impairment Nystagmus Downslanted palpebral fissures Depressed nasal bridge Abnormal facial shape Flexion contracture Abnormality of the skeletal system Posteriorly rotated ears Short neck Pectus carinatum Inguinal hernia Osteoporosis Blue sclerae Bilateral cryptorchidism Retinal detachment Disproportionate tall stature High, narrow palate Respiratory distress Genu valgum Seizures Microcephaly Strabismus Microcornea Ptosis Brachycephaly Aortic regurgitation Muscle weakness Long philtrum Cleft palate Dilatation Kyphosis Atrophic scars Cutis laxa Joint hypermobility Narrow palate Kyphoscoliosis Bruising susceptibility Webbed neck

Rare Symptoms - Less than 30% cases


Low-set, posteriorly rotated ears Spina bifida occulta Scapular winging Accelerated skeletal maturation Intrauterine growth retardation Amblyopia Shield chest Abnormality of the sternum Constipation Wide nasal bridge Retrognathia Umbilical hernia Telecanthus Atrioventricular canal defect Neonatal hypotonia Protruding ear Fragile skin Delayed puberty Long fingers Intestinal malrotation Ventriculomegaly Decreased fetal movement Dural ectasia Camptodactyly of finger Glaucoma Prominent forehead Conductive hearing impairment Hydronephrosis Joint stiffness Craniosynostosis Dental malocclusion Talipes Overgrowth Abnormal form of the vertebral bodies Abnormality of the metaphysis Bowing of the long bones Motor delay Elbow dislocation Dolichocephaly Abnormality of the hip bone Aplasia/Hypoplasia of the abdominal wall musculature Short philtrum Abnormal aortic valve morphology Generalized joint laxity Aortic root aneurysm Slender finger Aortic aneurysm Feeding difficulties in infancy Joint dislocation Reduced number of teeth Thick eyebrow Tapered finger Hypoplasia of the maxilla Joint contracture of the hand Thin skin Low anterior hairline High myopia Dermal translucency Cognitive impairment Growth delay Blepharophimosis Ventricular septal defect Visual impairment Low posterior hairline Supernumerary ribs Preauricular pit Triangular face Iris coloboma Decreased body weight Microphthalmia Dental crowding Pointed chin Knee flexion contracture Patent ductus arteriosus Bundle branch block Epicanthus Pneumothorax Unsteady gait Scarring Hypoplasia of the musculature Hyperlordosis Tall stature Generalized muscle weakness Abnormal bleeding Sepsis Gastrointestinal hemorrhage Esotropia Long metacarpals Arnold-Chiari type I malformation Oligohydramnios Anteriorly placed anus Absent/hypoplastic paranasal sinuses Short distal phalanx of hallux Large foramen magnum Short distal phalanx of the thumb Dislocated radial head Partial fusion of tarsals Single transverse palmar crease Ectopia lentis Hyperbilirubinemia Increased body weight Arnold-Chiari malformation Wrist flexion contracture Urethral stenosis Recurrent pneumonia Subglottic stenosis Thin ribs Metaphyseal widening Hammertoe Spina bifida Cranial hyperostosis Ureteral stenosis Metatarsus adductus Insulin resistance Polyneuropathy Coat hanger sign of ribs Blindness Long phalanx of finger Minimal subcutaneous fat Increased density of long bone diaphyses Partial fusion of carpals Anteriorly placed odontoid process Gait disturbance Respiratory insufficiency Hallux varus Cranial asymmetry Irregular metacarpals Abdominal wall muscle weakness Atlantoaxial dislocation Posterior vertebral hypoplasia Edema Myopathy Shallow orbits Communicating hydrocephalus Broad phalanges of the hand Obstructive sleep apnea Retinopathy Microglossia Genu recurvatum Missing ribs Abnormality of metabolism/homeostasis Arterial tortuosity Infantile muscular hypotonia Spondylolisthesis Antegonial notching of mandible Cloverleaf skull Lateral clavicle hook Gastroparesis Congestive heart failure Abnormal anterior chamber morphology Wide anterior fontanel Nephrolithiasis Adducted thumb Abnormal diaphysis morphology Microretrognathia Abnormality of the duodenum Horseshoe kidney Exotropia Failure to thrive Large fontanelles Pterygium Recurrent urinary tract infections Coarctation of aorta Frontal bossing Nephrotic syndrome Anteverted nares Hydrocephalus Facial asymmetry Recurrent skin infections Congenital contracture Broad forehead Abnormality of the mouth Endocarditis Flat forehead Ecchymosis Diastasis recti Talipes valgus Low hanging columella Hiatus hernia Distal arthrogryposis Cerebral hemorrhage Absent septum pellucidum Decreased palmar creases Prolonged bleeding time Delayed cranial suture closure Bilateral talipes equinovarus Hyperalgesia Abnormality of the coagulation cascade Arthrogryposis multiplex congenita Abnormal heart morphology Torticollis Atypical scarring of skin Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Abnormality of the foot Bladder diverticulum Bifid uvula Aortic dissection Soft skin Narrow chest Keratoconus Interphalangeal joint contracture of finger Heart murmur Choanal atresia Mitral regurgitation Intracranial hemorrhage Corneal dystrophy Keloids Arterial dissection Proptosis Abnormality of the pinna Thin upper lip vermilion Gastroesophageal reflux High forehead Narrow mouth Respiratory failure Camptodactyly Apnea Short nose Palmoplantar cutis laxa Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Persistence of primary teeth Failure to thrive in infancy Selective tooth agenesis Hemiplegia Vertebral compression fractures Facial hypotonia Abnormality of the antihelix Abnormal eyebrow morphology Posterior subcapsular cataract Thoracic kyphosis Iris hypopigmentation Subcapsular cataract Increased susceptibility to fractures Thickened helices Lumbar hyperlordosis Thin vermilion border Congenital cataract Platyspondyly Abnormal cardiac septum morphology Visual loss Depressivity Spasticity Disproportionate short-trunk short stature Unilateral cryptorchidism Spherocytosis Hyperkeratosis Tetralogy of Fallot Specific learning disability Nevus Thick vermilion border Pulmonic stenosis Abnormality of the kidney Hypertrophic cardiomyopathy Mandibular prognathia Delayed skeletal maturation Long toe Arrhythmia Hypospadias Abnormality of cardiovascular system morphology Intellectual disability, mild Left hemiplegia Dysplastic aortic valve Aplasia/Hypoplasia of the lens Abnormality of the intervertebral disk Cataract Abnormality of the hypothalamus-pituitary axis Abnormality of the genital system Thin eyebrow Convex nasal ridge Hip dysplasia Broad nasal tip Bursitis Ventral hernia Shoulder dislocation Squared iliac bones Knee dislocation Abnormality of the vasculature Tricuspid regurgitation Thoracic scoliosis Hallux valgus Bilateral ptosis Redundant skin Osteoarthritis Papule Hip dislocation Macrotia Laryngomalacia Right bundle branch block External ear malformation Upslanted palpebral fissure Anosmia Sacral dimple Azoospermia Hypogonadotrophic hypogonadism Hypoplasia of penis Retinal dystrophy Hemolytic anemia Hypogonadism Splenomegaly Reduced subcutaneous adipose tissue Feeding difficulties Hypoplastic heart Biventricular hypertrophy Narrow naris Wide nasal base Hand clenching Broad columella Entropion Myocardial infarction Abnormality of the face Craniofacial hyperostosis Cat cry Increased bone mineral density Delayed eruption of teeth Hirsutism Wide nose Coarse facial features Skeletal dysplasia Skeletal muscle atrophy Slender toe Aplasia/Hypoplasia of the tongue Coxa valga Narrow palm Chorioretinal dystrophy Macrodontia Thick hair Aplasia/Hypoplasia of the earlobes Abnormal eyelid morphology Hypoplasia of the zygomatic bone Abnormal eyelash morphology Elbow flexion contracture Short chin Cubitus valgus Ulnar deviation of finger Fused cervical vertebrae Cor pulmonale Long foot Tracheal stenosis Ankle contracture Esophageal atresia Synostosis of carpal bones Wheezing Metaphyseal dysplasia Abnormality of the genitourinary system Severe hearing impairment Hydroureter Decreased muscle mass Hyperostosis Tracheoesophageal fistula Abnormality of dental morphology Stridor Prominent supraorbital ridges Weak cry Sandal gap Subcutaneous nodule Freckling Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Neuroblastoma Multiple cafe-au-lait spots Decreased fertility Abnormal mitral valve morphology Abnormality of the ear External genital hypoplasia Melanocytic nevus Abnormality of the voice Myelodysplasia Melanoma Cafe-au-lait spot Left ventricular hypertrophy Redundant neck skin Abnormal localization of kidney Preauricular skin tag Prominent nasal bridge Gingival overgrowth Abnormality of retinal pigmentation Long eyelashes Open mouth Neutropenia Abnormality of skin pigmentation Neurological speech impairment Finger syndactyly Clinodactyly of the 5th finger Abnormality of the pulmonary artery Obesity Abnormality of the dentition Optic atrophy Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin C1-C2 vertebral abnormality



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