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:
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
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
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:
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
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
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
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
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
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
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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