Cryptorchidism, and Ulcerative colitis

Diseases related with Cryptorchidism and Ulcerative colitis

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


Top matches:

High 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

High match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

High match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

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Other less relevant matches:

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Low match TESTICULAR TERATOMA


Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

TESTICULAR TERATOMA Is also known as male germ cell tumor|mgct|teratoma of the testis

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about TESTICULAR TERATOMA

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


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}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Top 5 symptoms//phenotypes associated to Cryptorchidism and Ulcerative colitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Cleft palate Abnormality of the dentition Abnormality of the pinna Short stature Gastroesophageal reflux Growth delay Micrognathia Clinodactyly Global developmental delay Feeding difficulties Generalized hypotonia Talipes equinovarus Abnormality of the skeletal system Wide nasal bridge Depressed nasal bridge Hydrocephalus Syndactyly Short metatarsal Hypertelorism Myopia Abnormal facial shape Failure to thrive Cleft upper lip Increased body weight Seizures Autistic behavior Motor delay Hiatus hernia Mandibular prognathia Abnormal heart morphology Intellectual disability, severe Nystagmus Intrauterine growth retardation Tapered finger Camptodactyly Low-set ears High palate Autism Abnormality of cardiovascular system morphology Sleep disturbance Patent ductus arteriosus Sepsis Small hand Thick eyebrow Full cheeks

Rare Symptoms - Less than 30% cases


Omphalocele Obesity Multicystic kidney dysplasia Esophagitis Self-injurious behavior Renal cyst Hypoplasia of the radius Supernumerary ribs Incoordination Abnormality of the gastrointestinal tract Clubbing Anemia Renal hypoplasia Toe syndactyly Hyperhidrosis Widely spaced teeth Weight loss Umbilical hernia Hernia Pruritus Thin vermilion border Ventricular septal defect Congenital diaphragmatic hernia Optic atrophy Cognitive impairment Delayed eruption of teeth Ptosis Intestinal malrotation Atrial septal defect Inguinal hernia Supernumerary nipple Hand oligodactyly Narrow nasal bridge Apnea Prominent forehead Upslanted palpebral fissure Hyperactivity Micropenis Narrow mouth Thin upper lip vermilion External genital hypoplasia Hypoglycemia Respiratory tract infection Vomiting Hypermetropia Infertility Downturned corners of mouth Hypopigmentation of the skin Specific learning disability Sleep apnea Narrow forehead Spontaneous abortion Behavioral abnormality Acrocyanosis Abnormality of digit Aggressive behavior Hypoplastic nipples Ectrodactyly Oligodactyly Abdominal distention Single transverse palmar crease Astigmatism Prominent nasal bridge Postnatal growth retardation Vertebral fusion Fever Pneumonia Clitoral hypoplasia Short neck Anteverted nares Chromosome breakage Muscular hypotonia Delayed speech and language development Hypertension Colitis Hydronephrosis Brachydactyly Spina bifida occulta Bicuspid aortic valve Broad nasal tip Proptosis Ataxia Short metacarpal Webbed neck Blue sclerae Retrognathia Low anterior hairline Coarse facial features Pointed chin Dislocated radial head Congenital hip dislocation Carious teeth Hypogonadotrophic hypogonadism Decreased muscle mass Short ribs Spina bifida Bradycardia Finger clinodactyly Macrocephaly Stridor Pyloric stenosis Deep philtrum Proteinuria Iris coloboma Arachnodactyly Hirsutism Relative macrocephaly Brachycephaly Cleft lip Sparse hair Sensorineural hearing impairment Inflammation of the large intestine Coloboma Downslanted palpebral fissures Intellectual disability, mild Epicanthus Microphthalmia Papule Hypotrichosis Polydactyly Pectus excavatum Carcinoma Abdominal pain Delayed puberty Glaucoma Pulmonic stenosis Conductive hearing impairment Pain Short philtrum Scarring Telecanthus Hypoplastic labia minora Disseminated intravascular coagulation Erysipelas Narrow palm Central adrenal insufficiency Hypopnea Triangular mouth Temperature instability Psychotic episodes Constipation Almond-shaped palpebral fissure Pes planus Thick vermilion border Azoospermia Severe global developmental delay Neurological speech impairment Wide mouth Colon cancer Protruding ear Male infertility Intellectual disability, moderate Anxiety Deeply set eye Gait ataxia Poor gross motor coordination Pes cavus Gonadal dysgenesis Anteverted ears Encephalopathy Absent speech Pheochromocytoma Hypoplasia of the corpus callosum Retinoblastoma Teratoma Fatigue Acromicria Frontal upsweep of hair Curly eyelashes Testicular neoplasm Hyperinsulinemia Polyphagia Bone marrow hypocellularity Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Large hands Emotional lability Radial deviation of finger Precocious puberty Myeloid leukemia Bilateral cryptorchidism Absent thumb Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Narrow palpebral fissure Cystic renal dysplasia Aortic valve stenosis Insulin resistance Short thumb Impaired pain sensation Poor fine motor coordination Testicular teratoma Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Testicular dysgenesis Dysgerminoma Vestibular Schwannoma Neuroma Testicular microlithiasis Hypoplasia of the fovea Striae distensae Renal insufficiency Oligomenorrhea Anal atresia Overweight Stage 5 chronic kidney disease Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Choriocarcinoma Abnormal autonomic nervous system physiology Prominent nose High, narrow palate Recurrent urinary tract infections Choanal atresia Hypertrichosis Low posterior hairline High myopia Microdontia Otitis media Vesicoureteral reflux Triangular face Left-to-right shunt Microcornea Highly arched eyebrow Projectile vomiting Aspiration Duplication of internal organs Pulmonary hypoplasia Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Hypoplastic radial head Dysplastic tricuspid valve Coarctation of aorta Polyhydramnios Vertigo Micromelia Long eyelashes Elbow flexion contracture Synophrys Hypoplastic labia majora Gastroparesis Phocomelia Perimembranous ventricular septal defect Hypoplastic male external genitalia Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Esophageal stenosis Aspiration pneumonia Torticollis Poor appetite Weak cry Limited elbow extension Opisthotonus Ectopic kidney Hypertropia 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Proximal placement of thumb Abnormality of the urinary system Nausea and vomiting Hydroureter Abnormality of metabolism/homeostasis Mutism Echolalia Misalignment of teeth Megacystis Hyperventilation Hodgkin lymphoma Dysphasia Aphasia Overlapping toe Cupped ear Hypoperistalsis Coarse hair Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Abnormality of the helix Abnormal palate morphology Intellectual disability, progressive Absent hand Truncal ataxia Postnatal microcephaly Aganglionic megacolon Neoplasm of the heart Open mouth Thick lower lip vermilion Cyanosis Convex nasal ridge Wide intermamillary distance Clubbing of fingers Breathing dysregulation Primary amenorrhea Hypertonia Hip dislocation Small for gestational age Craniosynostosis Pallor Hypertrophic cardiomyopathy Severe short stature Clinodactyly of the 5th finger Delayed skeletal maturation Hypospadias Thrombocytopenia Headache Long philtrum Cardiomyopathy Thickened helices Overhanging nasal tip Triangular nasal tip Broad fingertip Microcolon Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Clumsiness Bifid ureter Cutaneous photosensitivity Short distal phalanx of the thumb Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Severe hydrocephalus Hamartomatous stomach polyps Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Irregular ossification of hand bones Dysphagia Neoplasm of the endocrine system Facial asymmetry Subcutaneous nodule Thin skin Split hand Interphalangeal joint contracture of finger Postaxial hand polydactyly Overgrowth Abnormality of the skin Nail dysplasia Dental malocclusion Ectodermal dysplasia Hypodontia Abnormality of skin pigmentation Abnormality of the foot Blindness Nail dystrophy Finger syndactyly Corneal opacity Microtia Cough Camptodactyly of finger Abnormal cardiac septum morphology Erythema Joint laxity Reduced visual acuity Agenesis of corpus callosum Alopecia Broad face Abnormality of the neck Telangiectasia Tracheal stenosis Kyphoscoliosis Visual loss Frontal bossing Dysarthria Spasticity Cataract Large joint dislocations Sclerotic vertebral endplates Subglottic stenosis Ulnar deviation of the hand Fused cervical vertebrae Neurogenic bladder Pierre-Robin sequence Facial palsy Hip contracture Hyperostosis Patent foramen ovale Prominent supraorbital ridges Abnormality of the genitourinary system Joint dislocation Coxa valga Bowing of the long bones Bifid uvula Feeding difficulties in infancy Skeletal dysplasia Flexion contracture EEG abnormality Oral cleft Short 4th metacarpal Melanocytic nevus Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Nephritis Postaxial polydactyly Glomerulonephritis Neoplasm of the skin Hemivertebrae Muscle stiffness Hyperpigmentation of the skin Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Hypoplasia of dental enamel Abnormality of epiphysis morphology Psychosis Abnormal adipose tissue morphology Kyphosis Congestive heart failure Myopathy Edema Ventriculomegaly Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Abnormality of the pulmonary vasculature Dilatation Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Short nose Hyporeflexia Abnormality of the middle ear Polymicrogyria Type II diabetes mellitus Decreased fetal movement Oligohydramnios Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Febrile seizures Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Short foot Short palm Genu valgum Recurrent respiratory infections Dolichocephaly Leukemia Stroke Attention deficit hyperactivity disorder Abnormality of the nervous system Neonatal hypotonia Photophobia Osteopenia Respiratory failure Diabetes mellitus Hypogonadism Osteoporosis Foot oligodactyly Rough bone trabeculation Short phalanx of finger Ectropion Anteriorly placed anus Telangiectasia of the skin Aplasia/Hypoplasia of the skin Macule Mixed hearing impairment Short finger Hypermelanotic macule Open bite Mild short stature Anophthalmia Abnormality of dental morphology Chorioretinal coloboma Ectopia lentis Facial cleft Hand polydactyly Brittle hair Dermal atrophy Reduced number of teeth Recurrent skin infections Arnold-Chiari malformation Oligodontia Renal hypoplasia/aplasia Abnormality of dental enamel Horseshoe kidney Abnormality of the nail Hoarse voice Aplasia cutis congenita Short clavicles Absent toenail Abnormality of the larynx Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Verrucae Aniridia Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Split foot Hypoplasia of the iris Foot polydactyly Rectal atresia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Gliosis, related diseases and genetic alterations Lymphoma and Proximal muscle weakness, related diseases and genetic alterations Hydrocephalus and Choanal atresia, related diseases and genetic alterations High palate and Bilateral sensorineural hearing impairment, related diseases and genetic alterations

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