Cryptorchidism, and Pancreatitis

Diseases related with Cryptorchidism and Pancreatitis

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


Top matches:

Medium match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Medium match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Medium match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

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Other less relevant matches:

Medium match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Low match CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA


Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

Top 5 symptoms//phenotypes associated to Cryptorchidism and Pancreatitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Ventricular septal defect Hypoplasia of penis Hydronephrosis Hepatomegaly Muscular hypotonia Polyhydramnios Hypertension Microcephaly Abnormal facial shape Hydroureter Exocrine pancreatic insufficiency Hypoglycemia Failure to thrive Round face Intestinal malrotation Vesicoureteral reflux Abdominal distention Abnormality of cardiovascular system morphology Umbilical hernia Inguinal hernia Depressed nasal bridge Hypertelorism Atrial septal defect Short stature Growth delay Hypospadias Neoplasm Abnormality of the liver Overgrowth Nephroblastoma Tall stature Renal dysplasia Pancreatic islet-cell hyperplasia Macroglossia Congenital diaphragmatic hernia Low-set, posteriorly rotated ears Portal hypertension Macrocephaly Short nose Dilatation Anteverted nares Aganglionic megacolon Delayed skeletal maturation Proptosis Cholestasis Hernia Intrauterine growth retardation Wide mouth Hearing impairment Hypothyroidism Coarse facial features High, narrow palate Specific learning disability Low-set ears Malabsorption Feeding difficulties in infancy Prominent forehead Agenesis of corpus callosum Patent ductus arteriosus Enlarged kidney Wide nasal bridge Large for gestational age Volvulus Intellectual disability, severe Hyperactivity Macrotia Cleft lip Upslanted palpebral fissure Strabismus Clinodactyly of the 5th finger Small for gestational age Micropenis Thick vermilion border Obesity Anal atresia Long philtrum

Rare Symptoms - Less than 30% cases


Poor speech Omphalocele Renal neoplasm Polysplenia Neuroblastoma Neurodevelopmental delay Abnormal vertebral morphology Hepatic failure Accelerated skeletal maturation Delayed puberty High forehead Respiratory failure Relative macrocephaly Long face Prominent nose Severe global developmental delay Muscular hypotonia of the trunk Deeply set eye Hypoxemia Autism Abnormality of pancreas morphology Pointed chin Nail dysplasia Hepatic fibrosis Postnatal growth retardation Tetralogy of Fallot Abnormality of the ribs Severe short stature Diabetes mellitus Cognitive impairment Neurological speech impairment Acidosis Short distal phalanx of finger Hyperinsulinemia Splenomegaly Long upper lip Visceromegaly Clitoral hypertrophy Diastasis recti Wide anterior fontanel Pulmonic stenosis Mandibular prognathia Multicystic kidney dysplasia Nephroblastomatosis Broad forehead Skeletal muscle atrophy Hyperreflexia Broad nasal tip Growth hormone deficiency Flat face Dysphagia Scoliosis Aplasia/Hypoplasia of the abdominal wall musculature Prominent nasal bridge Hepatoblastoma Widely spaced teeth Epicanthus Elevated hepatic transaminase Open mouth Spasticity Meckel diverticulum Respiratory distress Posterior helix pit Edema Downturned corners of mouth Duodenal atresia Abnormal heart morphology Hepatosplenomegaly Cardiomyopathy Abnormality of the dentition Ventriculomegaly Abnormality of the kidney Ureteral duplication Myopia Abnormality of the skeletal system Downslanted palpebral fissures Cataract Vertebral segmentation defect Talipes equinovarus Renal insufficiency Malnutrition Abnormal lung lobation Cardiomegaly Diarrhea Oligodontia Chorioretinal atrophy Pigmentary retinopathy Coarctation of aorta Long nose Nephrotic syndrome Congenital sensorineural hearing impairment Renal hypoplasia Corneal dystrophy Hypercholesterolemia Spina bifida occulta Finger clinodactyly Steatorrhea Dextrocardia Hemivertebrae Lymphedema Hypertriglyceridemia Renal hypoplasia/aplasia Glomerulosclerosis Heart murmur Exotropia Abnormal form of the vertebral bodies Hypoplasia of the ulna Abnormality of the genitourinary system Rectovaginal fistula Gastrointestinal hemorrhage Septate vagina Frontal bossing Anal stenosis Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Fair hair Calvarial skull defect Malrotation of small bowel Anasarca Abnormal hair pattern Intellectual disability, mild Absent lacrimal punctum Hypoproteinemia Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Congestive heart failure Clinodactyly Triangular face Abnormality of the pancreas Agenesis of permanent teeth Glycosuria Hypodontia Microcornea Hypopigmentation of the skin Anteriorly placed anus Cirrhosis Abnormality of skin pigmentation Stage 5 chronic kidney disease Hypopituitarism Hypoplastic nipples Pruritus Visual loss Short philtrum Stroke Retinopathy Scarring Craniosynostosis Protruding ear Carcinoma Conductive hearing impairment Jaundice Brachycephaly Areflexia Facial cleft Polydactyly Prolonged neonatal jaundice Transposition of the great arteries Short 2nd finger Penoscrotal hypospadias Broad toe Embryonal neoplasm Cervical ribs Chordee Increased IgE level Ankyloglossia Flared iliac wings Abnormality of the helix Furrowed tongue Low hanging columella Broad foot Broad palm 2-3 finger syndactyly Abnormality of digit Vertebral fusion Prolonged QT interval Supernumerary nipple Bundle branch block Bilateral talipes equinovarus Preauricular pit Cupped ear Abnormality of the voice Abnormality of the hand Narrow palpebral fissure Congenital hip dislocation Cardiac arrest Hoarse voice Short sacroiliac notch Narrow sacroiliac notch Preauricular skin tag Hypoplastic left heart Abnormality of the pulmonary vasculature Pulmonary valve atresia Right-to-left shunt Annular pancreas Absent gallbladder Accessory spleen Duodenal stenosis Ureteropelvic junction obstruction Pulmonary insufficiency Asplenia Single umbilical artery Ectrodactyly Atrioventricular canal defect Bilateral cryptorchidism Broad secondary alveolar ridge Tracheoesophageal fistula Bicuspid aortic valve Aortic valve stenosis Pulmonary arterial hypertension Cyanosis Apnea Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Short toe Cerebral visual impairment Telangiectasia of the skin Fat malabsorption Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Peripheral pulmonary artery stenosis Rectourethral fistula Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Unicoronal synostosis Reduced number of intrahepatic bile ducts Broad thumb Wide nose Abnormality of the genital system Clumsiness Cerebellar vermis hypoplasia Small nail Postaxial hand polydactyly Dandy-Walker malformation Webbed neck Dental malocclusion Bifid uvula Renal cyst Short foot Retinal detachment Postaxial polydactyly Short palm Butterfly vertebral arch Thin vermilion border Cleft upper lip Facial asymmetry Toe syndactyly Congenital cataract Finger syndactyly Camptodactyly of finger Irritability Arrhythmia Pectus excavatum Syndactyly Blindness Hydrocephalus Short neck Severe muscular hypotonia Nephropathy Hyperbilirubinemia High palate Lissencephaly Hypohidrosis Chronic diarrhea Postnatal microcephaly Pachygyria Ambiguous genitalia Decreased testicular size Gliosis Pulmonary hypoplasia Thin upper lip vermilion Motor delay Megaduodenum Profound global developmental delay Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Microcolon Pollakisuria Urinary retention Intestinal pseudo-obstruction Infantile spasms Hydranencephaly Peritonitis Insulin resistance Hypermelanotic macule Decreased muscle mass Glucose intolerance Hyperglycemia Large hands Precocious puberty Cachexia Cutis laxa Acanthosis nigricans Generalized hirsutism Gynecomastia Gingival overgrowth Duane anomaly Hypertrichosis Thick lower lip vermilion Epidermal acanthosis Type II diabetes mellitus Hirsutism Hyperkeratosis Recurrent respiratory infections Recurrent infections Type I lissencephaly Temperature instability Abnormality of temperature regulation Abdominal situs inversus Achalasia Lipoatrophy Lactic acidosis External genital hypoplasia Agitation Drooling Spastic tetraparesis Progressive microcephaly Lower limb spasticity Tetraparesis Sloping forehead Full cheeks Tapered finger Inability to walk Attention deficit hyperactivity disorder Large earlobe Aggressive behavior EEG abnormality Difficulty walking Gait ataxia Hypogonadism Babinski sign Absent speech Hypertonia Hypoplasia of the corpus callosum Delayed speech and language development Nystagmus Depressed nasal tip Male hypogonadism Chronic constipation Narrow chest Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Anonychia Intestinal obstruction Hypoalbuminemia External ophthalmoplegia Horseshoe kidney Recurrent urinary tract infections Interphalangeal joint contracture of finger Arachnodactyly Ophthalmoplegia Abdominal obesity Joint stiffness Weight loss Abdominal pain Pneumonia Constipation Vomiting Myopathy Fever Peripheral neuropathy Pain Tall chin Birth length less than 3rd percentile Reduced subcutaneous adipose tissue Severe intrauterine growth retardation Hypocalcemia Hemihypertrophy Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Anterior creases of earlobe Choroideremia Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Gonadoblastoma Multiple renal cysts Adrenocortical carcinoma Nevus flammeus Neonatal hypoglycemia Prominent metopic ridge Polycythemia Prominent occiput Melanocytic nevus Redundant skin Hypercalciuria Arnold-Chiari malformation Sleep apnea Nephrolithiasis Facial hemangioma Infra-orbital crease Premature birth Hypotrichosis Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Sparse scalp hair Microdontia Convex nasal ridge Underdeveloped nasal alae Generalized muscle weakness Hypoplasia of the maxilla Delayed eruption of teeth Single transverse palmar crease Dilated cardiomyopathy Branchial cyst Abnormal cardiac septum morphology Joint laxity Alopecia Fatigue Anemia Sensorineural hearing impairment Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Congenital megaureter Large placenta Large fontanelles Hypertrophic cardiomyopathy Hearing abnormality Postprandial hyperglycemia Dolichocephaly Abnormality of the pinna Hyperlordosis Retrognathia Posteriorly rotated ears Cerebral atrophy Ptosis Asymmetry of the breasts Prominent nipples Adipose tissue loss Elfin facies Female pseudohermaphroditism Ascites Absence of subcutaneous fat Abnormality of the abdominal wall Thick nasal alae Long penis Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Long foot Severe failure to thrive Thickened nuchal skin fold Smooth philtrum Abnormality of the cardiovascular system Midface retrusion Broad alveolar ridges Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Thymus hyperplasia Fetal ascites Abnormality of upper lip Lumbar scoliosis Intestinal atresia Lumbar hyperlordosis Femoral hernia Interrupted aortic arch Thickened helices Thick upper lip vermilion Capillary hemangioma Hamartoma Global brain atrophy Polycystic kidney dysplasia Growth abnormality Tented upper lip vermilion Bilateral single transverse palmar creases Status epilepticus Abnormality of the pulmonary veins



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Protruding ear, related diseases and genetic alterations Hyperreflexia and Pectus excavatum, related diseases and genetic alterations Macrocephaly and Pes planus, related diseases and genetic alterations Visual impairment and Lactic acidosis, related diseases and genetic alterations Ptosis and Hemolytic anemia, related diseases and genetic alterations Peripheral neuropathy and Dysarthria, related diseases and genetic alterations

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