Cryptorchidism, and Scarring

Diseases related with Cryptorchidism and Scarring

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


Top matches:

Medium 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

Medium match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Medium match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

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Other less relevant matches:

Medium match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

Medium match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


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

Medium match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


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

Medium match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1


Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Medium match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Cryptorchidism and Scarring

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hernia Pectus excavatum Failure to thrive Sensorineural hearing impairment Downslanted palpebral fissures Skeletal dysplasia Seizures Generalized hypotonia Low-set ears Hypertelorism Osteoporosis Inguinal hernia Short neck Scoliosis Proptosis Abnormal facial shape Microphthalmia Posteriorly rotated ears Intellectual disability, severe Micropenis Joint laxity Joint hyperflexibility Joint dislocation Macrocephaly Epicanthus Motor delay Muscular hypotonia Bowing of the long bones Alopecia Sparse hair Wide nasal bridge Depressed nasal bridge High palate Flexion contracture Fine hair Osteolysis Talipes equinovarus Atypical scarring of skin Umbilical hernia Narrow palate Cerebral atrophy Hydronephrosis Cleft palate Spasticity Hyperextensible skin Cutis laxa

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Pulmonic stenosis Full cheeks Coxa valga Bifid uvula Blue sclerae Conductive hearing impairment Bicuspid aortic valve Feeding difficulties in infancy Patent ductus arteriosus Intellectual disability, profound Behavioral abnormality Abnormality of the face Hemangioma Intellectual disability, mild Hypoplasia of the iris Nevus flammeus Capillary hemangioma Microcephaly Muscle weakness Intrauterine growth retardation Dilatation Dry skin Abnormal eyelash morphology Dental malocclusion Large joint dislocations Hypertonia Growth delay Flat face Long philtrum Iris coloboma Dental crowding Abnormal vertebral morphology Ventricular septal defect Progeroid facial appearance Elbow flexion contracture Wormian bones Lipodystrophy Aortic valve stenosis Sparse scalp hair Cutaneous photosensitivity Nevus Joint hypermobility Malar flattening Abnormality of skin pigmentation Coarse hair Narrow chest Hypermetropia Telecanthus Kyphoscoliosis Thickened calvaria Prominent forehead Severe short stature Midface retrusion Arachnoid cyst Craniofacial hyperostosis Hydrocephalus Sparse eyelashes Kyphosis Pigmentary retinopathy Pain Carious teeth Severe global developmental delay Retinopathy Delayed skeletal maturation Pes planus Abnormality of the dentition Nystagmus Osteopenia Cataract Agenesis of corpus callosum Nail dysplasia Narrow mouth Abnormality of the skeletal system Ptosis Neoplasm Photophobia Arnold-Chiari malformation Microretrognathia Low posterior hairline Coloboma Microcornea Delayed eruption of teeth Cerebellar hypoplasia Bruising susceptibility Papule Thickened skin Sparse and thin eyebrow Webbed neck Atrophic scars Choreoathetosis Progressive neurologic deterioration Tetraparesis Aphasia Generalized-onset seizure Gastrointestinal hemorrhage Dysphasia Chorea Eyelid coloboma Sepsis Chronic diarrhea Recurrent fractures Hypopigmentation of the skin Neurodegeneration Cortical dysplasia Nausea and vomiting Malabsorption Developmental regression Hypoglycemia Abnormality of the metaphysis Shock Spastic tetraparesis Prolonged neonatal jaundice Woolly hair Muscle stiffness Hypothermia Exostoses Sacral dimple Mitral valve prolapse Abnormality of lipid metabolism Mutism Hypopigmentation of hair Tarsal synostosis Multiple lipomas Prominent occiput Opisthotonus Osteomyelitis Hemiplegia Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Intracranial hemorrhage Abnormal palate morphology Jaundice Macrotia Absent septum pellucidum Glioma Sclerocornea Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Skin tags Abnormal eyelid morphology Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Interrupted aortic arch Tricuspid valve prolapse Porencephalic cyst Bone cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Astrocytoma Xanthomatosis Hemihypertrophy Echolalia Ectopia pupillae Epibulbar dermoid Subcutaneous lipoma Brachycephaly Abnormality of the skull Dementia Dysostosis multiplex Hamartoma Aplasia cutis congenita Diarrhea Cerebellar atrophy Fatigue Lipoma Dysarthria Hip dislocation Hemiatrophy Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Pili torti Skin ulcer Chondrocalcinosis Splenomegaly Polyneuropathy Congenital cataract Small for gestational age Prominent nasal bridge Postnatal growth retardation Proteinuria Deeply set eye Mandibular prognathia Arrhythmia Renal insufficiency Tremor Abnormality of the hair Optic atrophy Hepatomegaly Hypertension Strabismus Ataxia Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short hard palate Duplication of the distal phalanx of hand Broad toe Limitation of joint mobility Opacification of the corneal stroma Renal duplication Decreased lacrimation Subcortical white matter calcifications Patchy demyelination of subcortical white matter Abnormal peripheral myelination Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Slender nose Severe photosensitivity Increased cellular sensitivity to UV light Normal pressure hydrocephalus Loss of facial adipose tissue Delayed eruption of primary teeth Dermal atrophy Abnormal auditory evoked potentials Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Severe failure to thrive Abnormality of visual evoked potentials Basal ganglia calcification Reduced subcutaneous adipose tissue Anhidrosis Decreased nerve conduction velocity Aplasia of the middle phalanx of the hand Triangular mouth Aplasia/Hypoplasia of the abdominal wall musculature Anteverted nares Wide nose Short palm Oral cleft Wide mouth Thin upper lip vermilion Retrognathia Hypogonadism Upslanted palpebral fissure Clinodactyly Short nose Frontal bossing Small hand Brachydactyly Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Downturned corners of mouth Hypodontia Clitoral hypoplasia Radial deviation of finger Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Communicating hydrocephalus Misalignment of teeth Hypoplastic labia majora Shawl scrotum Hypoplastic nipples Increased number of teeth Long palpebral fissure Mesomelia Cone-shaped epiphysis Macroglossia Short chin Hemivertebrae Hypergonadotropic hypogonadism Wide anterior fontanel Gingival overgrowth Rhizomelia Long eyelashes Recurrent urinary tract infections Broad thumb Limb undergrowth Vesicoureteral reflux Subcutaneous nodule Cerebral cortical atrophy Hemiparesis Short metatarsal Tracheal stenosis Pierre-Robin sequence Hip contracture Dislocated radial head Decreased muscle mass Hyperostosis Stridor Patent foramen ovale Pyloric stenosis Prominent supraorbital ridges Deep philtrum Neurogenic bladder Abnormality of the genitourinary system Visual impairment Blindness Finger clinodactyly Congenital hip dislocation Pointed chin Low anterior hairline Visual loss Short metacarpal Broad nasal tip Ulcerative colitis Fused cervical vertebrae Thick eyebrow Hypoplasia of the fovea Arachnodactyly Optic nerve hypoplasia Anophthalmia Broad forehead Microtia Pectus carinatum Short middle phalanx of finger Abnormality of the nervous system Posterior embryotoxon Microglossia Retinal dysplasia Ulnar deviation of the hand Abnormality of cardiovascular system morphology Central hypothyroidism Ectopic posterior pituitary Skeletal muscle atrophy Mandibular aplasia Macular scar Proboscis Aglossia Myopic astigmatism Sclerotic vertebral endplates Subglottic stenosis Hirsutism Delayed puberty Single transverse palmar crease Squamous cell carcinoma Hypoplastic fingernail Furrowed tongue Dystrophic toenail Corneal erosion Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Hemiplegia/hemiparesis Dystrophic fingernails Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Reduced tendon reflexes Neoplasm of the skin Hypohidrosis Conjunctivitis Oral leukoplakia Corneal neovascularization Pes cavus Palmoplantar keratoderma Short philtrum Hyperhidrosis Hyperkeratosis Camptodactyly Carcinoma Arthritis Gastroesophageal reflux Erythema Nail dystrophy Ichthyosis Progressive visual loss Recurrent corneal erosions Aganglionic megacolon Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Hypoplasia of the maxilla Triangular face Pulmonary arterial hypertension Prominent metopic ridge Platybasia Low back pain Generalized osteosclerosis Abnormality of the rib cage Abnormality of the vasculature Osteolytic defects of the phalanges of the hand Meningocele Thin eyebrow Arnold-Chiari type I malformation Syringomyelia Knee dislocation Tethered cord Slender long bone Vertebral fusion Neurofibromas Back pain Nasal speech Atresia of the external auditory canal Squared iliac bones Sleep apnea Shoulder dislocation Increased bone mineral density Biconcave vertebral bodies Sclerosis of skull base Ventral hernia Knee flexion contracture Osteoarthritis Coarctation of aorta Cerebral calcification Dandy-Walker malformation Tetraplegia Hypotrichosis Neurological speech impairment Corneal opacity Paralysis Rigidity Redundant skin Large sella turcica Bilateral ptosis Hallux valgus Atrial septal defect Hypoplasia of the corpus callosum Ventriculomegaly Delayed speech and language development Thoracic scoliosis Short nasal bridge Basilar impression Abnormality of the middle ear ossicles Dural ectasia Narrow face Bursitis Congenital diaphragmatic hernia Genu recurvatum Dermal translucency Long toe Poor wound healing Small face Generalized osteoporosis Varicose veins Hypothyroidism Mild global developmental delay Periodontitis Gingivitis Short clavicles Forearm undergrowth Proportionate short stature Curly hair Bowing of the legs Bilateral cryptorchidism Elbow dislocation Sparse eyebrow Radioulnar synostosis Accelerated skeletal maturation Thin skin Astigmatism Retinal dystrophy Ulnar bowing Talipes equinovalgus Abnormal form of the vertebral bodies Gait disturbance Abnormality of the skin Urinary incontinence High, narrow palate Smooth philtrum Dolichocephaly Hyperlordosis Apnea Myopia Respiratory insufficiency Respiratory distress Peripheral neuropathy Absent earlobe Feeding difficulties Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Prominent scalp veins Advanced ossification of carpal bones Flat forehead Cerebellar calcifications



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