Cryptorchidism, and Joint hyperflexibility

Diseases related with Cryptorchidism and Joint hyperflexibility

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

Top matches:

High match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

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

Other less relevant matches:

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

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

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Joint hyperflexibility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Hearing impairment Long philtrum Abnormality of cardiovascular system morphology Wide nasal bridge Muscular hypotonia Hyperextensible skin Joint laxity Low-set ears Pectus excavatum Cleft palate Failure to thrive Growth delay Short neck Pulmonic stenosis Pes planus Sensorineural hearing impairment Talipes equinovarus Inguinal hernia Generalized hypotonia Low-set, posteriorly rotated ears Camptodactyly of finger Severe short stature Ptosis Bifid uvula Recurrent respiratory infections Clinodactyly of the 5th finger Cataract Intrauterine growth retardation Depressed nasal bridge Micrognathia Microcephaly Posteriorly rotated ears Seizures Osteopenia Skeletal dysplasia Broad forehead Accelerated skeletal maturation Epicanthus Midface retrusion Pectus carinatum Osteoporosis

Rare Symptoms - Less than 30% cases

Atrioventricular canal defect Hypothyroidism Bulbous nose Specific learning disability Long toe Patent ductus arteriosus Shield chest Abnormality of the antihelix Joint hypermobility Mitral valve prolapse Webbed neck Abnormal cardiac septum morphology Depressivity Microphthalmia Kyphosis Atrial septal defect Curly hair Talipes Strabismus Full cheeks Elbow dislocation Bowing of the long bones Blue sclerae Kyphoscoliosis Flexion contracture Dermal translucency Intellectual disability, mild Premature skin wrinkling Cutis laxa Abnormality of the face Triangular face Nevus Congenital diaphragmatic hernia Vesicoureteral reflux Arachnodactyly Cognitive impairment Single transverse palmar crease Congestive heart failure Abnormality of the dentition Behavioral abnormality Umbilical hernia Attention deficit hyperactivity disorder Short foot Bilateral cryptorchidism Arthralgia Shawl scrotum Genu recurvatum Dilatation Hernia Hypospadias Arrhythmia Ventricular septal defect Joint dislocation Frontal bossing Broad foot Fine hair Abnormality of the metaphysis Broad thumb Prominent nose Hypoplasia of the maxilla Round face Finger syndactyly Delayed eruption of teeth Thin vermilion border Joint stiffness Hoarse voice Abnormality of skin pigmentation Redundant skin Retrognathia Spasticity Narrow chest High palate Downslanted palpebral fissures Anteverted nares Prominent forehead Scapular winging Forearm undergrowth Poor wound healing Ulnar bowing Melanocytic nevus Soft, doughy skin Tetralogy of Fallot Myocardial infarction Abnormality of the voice Myelodysplasia Cafe-au-lait spot Large joint dislocations Prominent scalp veins Abnormality of the genital system Advanced ossification of carpal bones Melanoma Subcutaneous nodule Spina bifida occulta Slender toe Flat forehead Absent earlobe Talipes equinovalgus Left ventricular hypertrophy Thick vermilion border Neonatal hypotonia Delayed puberty Spinal cord compression Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Facial wrinkling Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Abnormality of the clavicle Phalangeal dislocation Overweight Hip contracture Ulnar deviation of finger Abnormality of primary teeth Short finger Proximal placement of thumb Overfolded helix Short long bone Visceral angiomatosis Testicular torsion Abnormality of the kidney Cystic lesions of the pinnae Hypertrophic cardiomyopathy Bundle branch block Mandibular prognathia Hyperkeratosis Brachycephaly Delayed skeletal maturation Hypertrophic auricular cartilage Costal cartilage calcification Flattened epiphysis Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Small face Skeletal muscle atrophy External genital hypoplasia Toe syndactyly Hand polydactyly Schizophrenia Thin skin Coarctation of aorta Sleep disturbance Iris coloboma Sparse and thin eyebrow Autistic behavior High hypermetropia Intellectual disability, moderate Aggressive behavior Disproportionate short-limb short stature Aortic valve stenosis Hydronephrosis Deeply set eye Autism Broad hallux Sparse scalp hair Elbow flexion contracture Microtia Alopecia Narrow mouth Proptosis Abnormality of the nervous system Telecanthus Scarring Ankyloglossia Hypermetropia Cutaneous photosensitivity Interrupted aortic arch Flat face Bruising susceptibility Broad hallux phalanx Truncus arteriosus Foot polydactyly Transposition of the great arteries Hyperactivity Agenesis of corpus callosum Abnormality of the ear Atypical scarring of skin Right ventricular hypertrophy Sprengel anomaly Severe sensorineural hearing impairment Short clavicles Neuroblastoma Multiple cafe-au-lait spots Gingivitis Periodontitis Redundant neck skin Mild global developmental delay Progeroid facial appearance Varicose veins Generalized osteoporosis Motor delay Freckling Decreased fertility Wolff-Parkinson-White syndrome Aplasia/Hypoplasia of the abdominal wall musculature Coxa valga Sparse eyebrow Hydrocephalus Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Sparse eyelashes Radioulnar synostosis Lipodystrophy Abnormal endocardium morphology Abnormal mitral valve morphology Bowing of the legs Atrophic scars Multiple lentigines Excessive wrinkled skin Proportionate short stature Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Anxiety Recurrent fractures Abnormality of the metacarpal bones Muscle weakness Congenital cataract Platyspondyly Hyperlordosis Visual loss Myopia Visual impairment Nystagmus Retinal detachment Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Sutural cataract High iliac wings Narrow iliac wings Unsteady gait Lumbar hyperlordosis Delayed closure of the anterior fontanelle Thoracic kyphosis Unilateral cryptorchidism Thickened helices Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormal eyebrow morphology Posterior subcapsular cataract Iris hypopigmentation Low posterior hairline Subcapsular cataract Long fingers Preauricular pit Hemiplegia Increased susceptibility to fractures Amblyopia Decreased body weight Hypoplasia of teeth Decreased skull ossification Aplasia/Hypoplasia of the lens Deep philtrum Delayed speech and language development Abnormally low-pitched voice Deep-set nails Thin nail Hypoplastic toenails Large hands Sandal gap Malar flattening Abnormality of the fingernails Tall stature Hypoplasia of penis Feeding difficulties in infancy Macrotia Pes cavus Hypertonia Optic atrophy Gastroesophageal reflux Capillary hemangioma Large fontanelles Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Hemangioma Wide anterior fontanel Hyperpigmentation of the skin Microdontia Thin upper lip vermilion Esotropia Wide nose Smooth philtrum Carious teeth Prominent nasal bridge Sparse hair Wide mouth Abnormality of the intervertebral disk Dysplastic aortic valve Abnormality of the outer ear Ileus Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Ascending tubular aorta aneurysm Arterial stenosis Bladder diverticulum Renal diverticulum Cor pulmonale Atelectasis Pulmonary artery stenosis Prematurely aged appearance Progressive sensorineural hearing impairment Delayed cranial suture closure Emphysema Bowel diverticulosis Pain Aortic aneurysm Limb undergrowth Increased bone mineral density Short phalanx of finger Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Osteoarthritis Interphalangeal joint contracture of finger Abnormality of the ribs Cerebral calcification Respiratory insufficiency Hip dysplasia Micromelia Abnormality of the foot Arthrogryposis multiplex congenita Pneumonia Abnormal heart morphology Obesity Epiphyseal dysplasia Shock Left hemiplegia Submucous cleft hard palate Abnormality of the cheek Neoplasm of the tongue Thyroid dysgenesis Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Long nose Oral cleft Prominent occiput Bilateral single transverse palmar creases Short palpebral fissure Sloping forehead Blepharophimosis Polyhydramnios Feeding difficulties Cleft upper lip Short palm Wormian bones Hypertension Recurrent urinary tract infections Bilateral sensorineural hearing impairment Oligohydramnios Overgrowth Hemolytic anemia Hip dislocation Respiratory distress Anemia Small hand Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline External ear malformation Megalocornea Broad palm Everted lower lip vermilion Palmoplantar cutis gyrata


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