Cryptorchidism, and Polyhydramnios

Diseases related with Cryptorchidism and Polyhydramnios

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

Top matches:

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

High match HYDROLETHALUS

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Other less relevant matches:

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

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

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Polyhydramnios

Symptoms // Phenotype % cases
Micromelia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Cleft palate Micrognathia Short ribs Omphalocele

Rare Symptoms - Less than 30% cases

Ptosis Lateral clavicle hook Underdeveloped nasal alae Delayed speech and language development Abnormal lung lobation Severe short stature Anal atresia Scoliosis Aplasia/Hypoplasia of the lungs Abnormally ossified vertebrae Short neck Abnormality of cardiovascular system morphology Hypertelorism Umbilical hernia Oral cleft Wide nasal bridge Premature birth Hydrocephalus Narrow mouth Bilateral cryptorchidism Hydroureter Multicystic kidney dysplasia Atrial septal defect Microphthalmia Agenesis of corpus callosum Deeply set eye Low-set, posteriorly rotated ears Intestinal malrotation Downslanted palpebral fissures Respiratory distress Hypoplastic toenails Metaphyseal irregularity Fibular hypoplasia Hypoplastic scapulae Severe hydrops fetalis Flat acetabular roof Ovoid vertebral bodies Unossified vertebral bodies Hypoplastic ilia Advanced ossification of carpal bones Diaphyseal thickening Vertebral hypoplasia Disproportionate short-limb short stature Hypoplastic vertebral bodies Anterior rib cupping Dumbbell-shaped long bone Skeletal dysplasia Accelerated skeletal maturation Abdominal wall defect Abnormality of the face Abnormality of the outer ear Nephroblastoma Large for gestational age Abnormality of the ureter Enlarged kidney Neonatal hypoglycemia Nevus flammeus Diastasis recti Hemihypertrophy Visceromegaly Rhabdomyosarcoma Anterior creases of earlobe Abnormality of the fingernails Embryonal neoplasm Auricular pit Edema Malar flattening Midface retrusion Increased fibular diameter Dolichocephaly Platyspondyly Abnormality of the metaphysis Abnormal form of the vertebral bodies Lymphedema Spontaneous abortion Advanced tarsal ossification Thick lower lip vermilion Snail-like ilia Optic atrophy Coronal cleft vertebrae Abnormality of the humerus Fibular aplasia Abnormality of the radius Abnormal bone ossification Aplasia/Hypoplasia of the fibula Severe short-limb dwarfism Hypoplastic iliac body Hypoplastic nasal septum Poorly ossified vertebrae Cataract Microtia Abnormality of femur morphology Iris coloboma Microcornea Abnormality of the ribs Missing ribs Tracheal stenosis Abnormality of the larynx Vaginal atresia Aplasia/Hypoplasia of the nipples Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Tetraamelia Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of tibia morphology Intellectual disability Sparse eyebrow Abnormal facial shape Depressed nasal bridge Epicanthus Posteriorly rotated ears Hypertrophic cardiomyopathy Pulmonic stenosis Dental malocclusion Webbed neck Wide intermamillary distance Macroglossia Sparse and thin eyebrow Cubitus valgus Abnormality of the ulna Abnormality of coagulation Prolonged bleeding time Curly hair Blue irides High anterior hairline Pectus excavatum of inferior sternum Alopecia Finger syndactyly Growth hormone deficiency Hydrops fetalis Abnormality of the metacarpal bones Absent radius Overgrowth Absent gallbladder Facial asymmetry Thoracic hypoplasia Rod-cone dystrophy Polydactyly Cleft lip Stage 5 chronic kidney disease Postaxial polydactyly Ectodermal dysplasia Nephrocalcinosis Abnormality of the genitourinary system Short long bone Metaphyseal widening Short thorax Obesity Bell-shaped thorax Thoracic dysplasia Horizontal ribs Hearing impairment Growth delay Failure to thrive Strabismus Talipes equinovarus Abnormality of the dentition Long philtrum Hernia Recurrent respiratory infections Renal insufficiency Joint stiffness Postaxial hand polydactyly Nausea and vomiting Abdominal distention Sepsis Abnormality of the gastrointestinal tract Microcolon Megacystis Hypoperistalsis Neoplasm of the heart Low-set ears Retrognathia Bifid uvula Laryngomalacia Respiratory insufficiency Anophthalmia Absent septum pellucidum Submucous cleft hard palate Anencephaly Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Gingival cleft Feeding difficulties in infancy Camptodactyly of finger Autistic behavior Abnormality of the pulmonary vasculature Volvulus Hypoxemia Pulmonary insufficiency Ureteropelvic junction obstruction Duodenal stenosis Accessory spleen Meckel diverticulum Annular pancreas Right-to-left shunt Pulmonary valve atresia Abnormality of the pulmonary veins Asplenia Seizures Neoplasm Muscle weakness Hepatomegaly Splenomegaly Clinodactyly Abnormal heart morphology Inguinal hernia Micropenis Hypoglycemia Abnormality of the kidney Duodenal atresia Single umbilical artery Neurological speech impairment Hydronephrosis Oligohydramnios Depressed nasal ridge Nasal speech Ulnar deviation of finger Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Hypertension Patent ductus arteriosus Respiratory failure Apnea Ectrodactyly Vesicoureteral reflux Cyanosis Tetralogy of Fallot Pulmonary arterial hypertension Aganglionic megacolon Abnormal vertebral morphology Aortic valve stenosis Bicuspid aortic valve Tracheoesophageal fistula Hypoplastic left heart Atrioventricular canal defect Aplasia/Hypoplasia involving the pelvis


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