Cryptorchidism, and Bruising susceptibility

Diseases related with Cryptorchidism and Bruising susceptibility

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


Top matches:

High match THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA


XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).

Related symptoms:

  • Cryptorchidism
  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA

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 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

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Other less relevant matches:

High match FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC


Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC Is also known as facc|fac|fa3|fanconi pancytopenia, type 3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

High match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

High match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

High 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

High match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Bruising susceptibility

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Hyperextensible skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Hearing impairment Hypergonadotropic hypogonadism Thrombocytopenia Global developmental delay Epicanthus Cutis laxa Scoliosis Joint laxity Joint hypermobility Pes planus Osteopenia Osteoporosis Atrophic scars Talipes equinovarus Horseshoe kidney Abnormality of skin pigmentation Microcephaly Flexion contracture Neoplasm Abnormality of cardiovascular system morphology Short neck Strabismus Depressed nasal bridge Chromosomal breakage induced by crosslinking agents Ectopic kidney Deficient excision of UV-induced pyrimidine dimers in DNA Complete duplication of thumb phalanx Reticulocytopenia Absent radius Absent thumb Bone marrow hypocellularity Duplicated collecting system Downslanted palpebral fissures Prolonged G2 phase of cell cycle Motor delay Thin skin Arachnodactyly Joint dislocation Broad forehead Pectus carinatum Kyphoscoliosis Pectus excavatum Hypertelorism Anemic pallor Generalized hypotonia High myopia Single transverse palmar crease Flat forehead Retrognathia Long philtrum Cafe-au-lait spot High palate Short thumb Blue sclerae Pancytopenia Talipes Inguinal hernia Mitral valve prolapse Renal agenesis Scarring Abnormal facial shape Microphthalmia Abnormal heart morphology Leukemia Small for gestational age Neutropenia

Rare Symptoms - Less than 30% cases


Narrow mouth Prominent forehead Overgrowth Retinal detachment Abnormality of the skeletal system Sparse scalp hair Dermal translucency Bilateral cryptorchidism Microcornea Sparse and thin eyebrow Aortic aneurysm Telecanthus Prolonged bleeding time Abnormality of the sternum Generalized osteoporosis Atypical scarring of skin Wide nasal bridge Ptosis Failure to thrive Cleft palate Micrognathia Umbilical hernia Low-set ears Brachycephaly Spina bifida Generalized joint laxity Myopia Abnormality of the vasculature Muscle weakness Respiratory distress Growth delay Glaucoma Brachydactyly Joint hyperflexibility Redundant skin Dental crowding Narrow palate Alopecia Microtia Macrocephaly Webbed neck Dilatation Heart murmur Abnormality of the hip bone Disproportionate tall stature Aortic regurgitation Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Torticollis Recurrent pneumonia Osteosarcoma Brain neoplasm Hyperbilirubinemia Spina bifida occulta Microcytic anemia Increased body weight Myelomeningocele Underdeveloped supraorbital ridges Corneal dystrophy Intracranial hemorrhage Protruding tongue Generalized muscle weakness Joint contracture of the hand Neonatal hypotonia Blindness Edema Respiratory insufficiency Gait disturbance Visual impairment Neurocytoma Myopathy Slender finger Kyphosis Triangular nasal tip Abnormality of metabolism/homeostasis Hemoglobin H Reduced alpha/beta synthesis ratio Hypochromic anemia Insulin resistance Hyperlordosis Retinopathy Asymmetry of the thorax Dolichocephaly Unsteady gait Polyneuropathy Abnormal bleeding Sepsis Gastrointestinal hemorrhage Esotropia Oligohydramnios Decreased fetal movement Tall stature Congestive heart failure Posteriorly rotated ears Keratoconus Bilateral talipes equinovarus Nephrotic syndrome Coarctation of aorta Recurrent urinary tract infections Large fontanelles Nephrolithiasis Exotropia Low anterior hairline Microretrognathia Adducted thumb Recurrent skin infections Pterygium Congenital contracture Cerebral hemorrhage Abnormality of the coagulation cascade Delayed cranial suture closure Tapered finger Fragile skin Absent septum pellucidum Distal arthrogryposis Abnormality of the mouth Hiatus hernia Low hanging columella Diastasis recti Ecchymosis Pneumothorax Abnormal anterior chamber morphology Endocarditis Talipes valgus Decreased palmar creases Hyperalgesia Intestinal malrotation High, narrow palate Aortic root aneurysm Arterial rupture Soft skin Aortic dissection Bladder diverticulum Subcutaneous hemorrhage Lens luxation Thoracic kyphoscoliosis Keloids Dural ectasia Arterial dissection Palmoplantar cutis laxa Premature rupture of membranes Wrist drop Moderate myopia Decreased pulmonary function Molluscoid pseudotumors Thick eyebrow Thin upper lip vermilion Facial asymmetry Arthrogryposis multiplex congenita Short philtrum Blepharophimosis Protruding ear Hydronephrosis Respiratory failure Spontaneous rupture of the globe Supernumerary nipple Constipation Short nose Atrial septal defect Ventriculomegaly Progressive congenital scoliosis Aplasia/Hypoplasia of the eyebrow Bowing of the legs Radial deviation of finger Eclabion Ichthyosis Hirsutism Thick vermilion border Everted lower lip vermilion Narrow forehead Thick lower lip vermilion Decreased body weight Bronchiectasis Gingival overgrowth Increased susceptibility to fractures Premature ovarian insufficiency High pitched voice Palpebral edema Urethral stenosis Coarse facial features Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Skeletal muscle atrophy Abnormality of the dentition Intellectual disability, mild Midface retrusion Severe short stature Proptosis Skeletal dysplasia Abnormality of the nervous system Hypermetropia Sparse hair Hypogonadism Pulmonic stenosis Papule Epistaxis Petechiae Anisocytosis Acanthocytosis Anemia of inadequate production Poikilocytosis Macrothrombocytopenia Giant platelets Persistent bleeding after trauma Abnormal platelet morphology Congenital thrombocytopenia Macrotia Hip dislocation Low posterior hairline Cognitive impairment Osteoarthritis Bilateral ptosis Hallux valgus Thoracic scoliosis Thin eyebrow Knee dislocation Squared iliac bones Shoulder dislocation Ventral hernia Bursitis Syndactyly Delayed skeletal maturation Hypotelorism Narrow chest Flat face Polycystic kidney dysplasia Anteverted nares Prominent scalp veins Large joint dislocations Soft, doughy skin Slender toe Testicular torsion Phalangeal dislocation Facial wrinkling Abnormality of primary teeth Palmoplantar cutis gyrata Seizures Cataract Fatigue Frontal bossing Malar flattening Absent earlobe Obesity Hypospadias Patent ductus arteriosus Micropenis High forehead Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormality of the kidney Neurological speech impairment Congenital cataract Macroglossia Abnormality of the genital system Short toe Advanced ossification of carpal bones Talipes equinovalgus Triangular face Sparse eyebrow Bifid uvula Nevus Congenital diaphragmatic hernia Cutaneous photosensitivity Fine hair Bowing of the long bones Aortic valve stenosis Elbow flexion contracture Coxa valga Accelerated skeletal maturation Sparse eyelashes Radioulnar synostosis Lipodystrophy Elbow dislocation Forearm undergrowth Curly hair Proportionate short stature Short clavicles Genu recurvatum Gingivitis Periodontitis Mild global developmental delay Progeroid facial appearance Varicose veins Small face Poor wound healing Long toe Ulnar bowing Abnormality of the duodenum



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