Cryptorchidism, and Jaundice

Diseases related with Cryptorchidism and Jaundice

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


Top matches:

High match PITUITARY STALK INTERRUPTION SYNDROME


Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

High match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

High match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

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Other less relevant matches:

High match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

High match PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

High match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

High match PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME


Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

High match PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A


The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

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 SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Jaundice

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Muscular hypotonia Hypertelorism Micrognathia Cataract Hernia Nystagmus Single transverse palmar crease Cleft palate Epicanthus Hepatomegaly High palate Hypertonia Overgrowth Umbilical hernia Prolonged neonatal jaundice Full cheeks Macrocephaly Anemia Pigmentary retinopathy Abnormal heart morphology Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Prominent forehead Ventricular septal defect Poor suck Opacification of the corneal stroma Large fontanelles Dilatation Inguinal hernia Agenesis of corpus callosum Narrow mouth Upslanted palpebral fissure Low-set ears Splenomegaly Talipes equinovarus Areflexia High forehead Apnea Camptodactyly Aggressive behavior Elevated hepatic transaminase Hypoplasia of the corpus callosum Anteverted nares Optic nerve dysplasia Abnormal facial shape Brushfield spots Nephroblastoma Intellectual disability, profound Abnormality of the face Abnormality of the helix Palpebral edema Intrahepatic biliary dysgenesis Metatarsus adductus Clitoral hypertrophy Stippled chondral calcification Cutis laxa Patent ductus arteriosus Cubitus valgus Motor delay Facial asymmetry Downslanted palpebral fissures Abnormality of the kidney Frontal bossing Abnormality of the skeletal system Mandibular prognathia Ventriculomegaly Brachycephaly Cerebral atrophy Joint laxity Feeding difficulties in infancy Fatigue Developmental regression Intellectual disability, severe Polymicrogyria Optic atrophy Carcinoma Diarrhea Respiratory distress Hypertension Overfolded helix Neoplasm Coarse facial features Neonatal hypotonia Respiratory tract infection Narrow palate Hypoglycemia Generalized-onset seizure Short stature Dolichocephaly Gastrointestinal hemorrhage Hamartomatous polyposis Hyperreflexia Behavioral abnormality Feeding difficulties Vesicoureteral reflux Strabismus Muscle weakness Chorea Dementia Tetraparesis Cortical gyral simplification Brisk reflexes Nausea and vomiting Deep philtrum CNS hypomyelination Osteoporosis Sepsis Tented upper lip vermilion Fine hair Progressive neurologic deterioration Scrotal hypoplasia Cerebral visual impairment Malabsorption Severe global developmental delay Gingival overgrowth Sparse scalp hair Narrow chest Joint hyperflexibility Recurrent fractures Dry skin Growth delay Elevated long chain fatty acids Abnormality of the mitochondrion Hypoplasia of the thymus Turricephaly Polycystic kidney dysplasia Intellectual disability, progressive Aminoaciduria Joint contracture of the hand Neurodegeneration Acidosis Spasticity Abnormality of cardiovascular system morphology Dysarthria Cerebellar atrophy Hypopigmentation of the skin Tented philtrum Microalbuminuria Primitive reflex Thin bony cortex Long palpebral fissure Pathologic fracture Pectus excavatum Sparse hair Opisthotonus Choreoathetosis Hypoplasia of dental enamel Reduced number of teeth Abnormal dermatoglyphics Accelerated skeletal maturation Pointed chin Narrow face Abnormal vertebral morphology Lymphedema Tall stature Heterotopia Precocious puberty Clumsiness Small nail Apraxia Sloping forehead Renal agenesis Otitis media Hypodontia High, narrow palate Joint hypermobility Redundant skin Large hands Hypermetropia Periventricular leukomalacia Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Overbite Abnormal glucose tolerance Oxycephaly Agenesis of permanent teeth Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Acute lymphoblastic leukemia Neuroblastoma Partial agenesis of the corpus callosum Genu valgum Leukemia Abnormality of the metaphysis Intracranial hemorrhage Hypopigmentation of hair Tarsal synostosis Prominent occiput Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Hyperextensible skin Exostoses Coarse hair Abnormal palate morphology Shock Spastic tetraparesis Joint dislocation Wormian bones Thickened skin Chronic diarrhea Bowing of the long bones Abnormality of lipid metabolism Atypical scarring of skin Conductive hearing impairment Hypocupremia Pes planus Macrotia Atrial septal defect Delayed speech and language development Scoliosis Hearing impairment Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Multiple joint dislocation Hypothermia Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Hypertrichosis Thin vermilion border Cerebellar vermis hypoplasia Tremor Exotropia Poor speech Congenital cataract Clinodactyly of the 5th finger Clinodactyly Respiratory insufficiency Flexion contracture Finger clinodactyly Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Progressive microcephaly Infantile spasms Rectal prolapse Deeply set eye Prominent nose Premature birth Macroglossia Abdominal distention Hematuria Synophrys Polyhydramnios Inverted nipples Proptosis Malar flattening Abnormality of the dentition Reduced antithrombin III activity Type I transferrin isoform profile Skin dimples Hypoproteinemia Stomach cancer Intestinal polyposis Abnormality of the outer ear Abnormality of the hypothalamus-pituitary axis Headache Congestive heart failure Pain Abnormality of the pituitary gland Septo-optic dysplasia Ectopic posterior pituitary Adrenal hypoplasia Dyspnea Diabetes insipidus Primary amenorrhea Hypoplasia of penis Hypotension Delayed puberty Hypothyroidism Micropenis Abdominal pain Stroke Clubbing of fingers Portal hypertension Hematochezia Hemoptysis Polycythemia Hamartoma Colon cancer Clubbing Hypoalbuminemia Cough Hypokalemia Diplopia Telangiectasia Epistaxis Cyanosis Chest pain Vertigo Cardiomegaly Large for gestational age Hypsarrhythmia Arnold-Chiari type I malformation Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Narrow nose Syringomyelia Partial absence of the septum pellucidum Absent septum pellucidum Cutis marmorata Obsessive-compulsive behavior Sparse eyebrow Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Craniofacial asymmetry Ptosis Hip dysplasia Muscular hypotonia of the trunk Narrow forehead Delayed myelination Generalized myoclonic seizures Tapered finger Hirsutism Abnormality of the liver Osteopenia Blindness Cerebral cortical atrophy Diabetes mellitus Hypogonadism Recurrent respiratory infections Cerebellar hypoplasia Pneumonia Obesity Renal hypoplasia Urinary incontinence Abnormality of the ureter Visceromegaly Auricular pit Posterior helix pit Hemifacial hypertrophy Anterior creases of earlobe Asymmetry of the thorax Abdominal wall defect Hemihypertrophy Hepatosplenomegaly Mild global developmental delay Diastasis recti Abnormal eyebrow morphology Capillary hemangioma Nevus flammeus Enlarged kidney Neonatal hypoglycemia Congenital megaureter Flat face Broad forehead Hyperactivity Attention deficit hyperactivity disorder Retinopathy Craniosynostosis Hydronephrosis Thin upper lip vermilion Polydactyly Short nose Renal cyst Hydrocephalus Cognitive impairment Renal cortical microcysts Macrogyria Generalized neonatal hypotonia Epiphyseal stippling Round face Abnormality of the cerebral ventricles



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