Cryptorchidism, and Neuroblastoma

Diseases related with Cryptorchidism and Neuroblastoma

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


Top matches:

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Medium match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

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

Medium match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium 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

Medium match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Medium match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Neuroblastoma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Abnormality of the kidney

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm

Common Symptoms - More than 50% cases


Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Hypospadias

Common Symptoms - More than 50% cases


Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Downslanted palpebral fissures Proptosis Short stature Polyhydramnios Low-set, posteriorly rotated ears Micrognathia Low-set ears High palate Depressed nasal bridge Epicanthus Wide nasal bridge Pectus excavatum Mandibular prognathia Strabismus Coarse facial features Umbilical hernia Diastasis recti Posteriorly rotated ears Overgrowth Short neck Cataract Intellectual disability, mild Macroglossia Hernia Renal cyst Accelerated skeletal maturation Hypoglycemia Delayed speech and language development Macrocephaly Nephroblastoma Growth delay Muscular hypotonia Polydactyly Pulmonic stenosis Omphalocele Inguinal hernia Hypothyroidism Splenomegaly Large for gestational age Enlarged kidney Cardiomyopathy Microcephaly Hepatomegaly Ptosis Clumsiness Cognitive impairment Behavioral abnormality Hypoplasia of dental enamel Hydronephrosis Rhabdomyosarcoma Arrhythmia Embryonal neoplasm Dandy-Walker malformation Hyperactivity Abnormality of the face High, narrow palate Hepatoblastoma Obesity Gastroesophageal reflux Joint hypermobility Dental malocclusion Hemihypertrophy Leukemia Sensorineural hearing impairment Posterior helix pit Bicuspid aortic valve Conductive hearing impairment Coarctation of aorta Delayed skeletal maturation Constipation Nevus Large fontanelles Neurological speech impairment Frontal bossing Wide mouth Vesicoureteral reflux Feeding difficulties in infancy Edema Visceromegaly Nystagmus Hypertrophic cardiomyopathy Nevus flammeus Neonatal hypoglycemia Upslanted palpebral fissure Clinodactyly of the 5th finger Brachycephaly Narrow mouth Neonatal hypotonia Tall stature Abnormality of the pinna Wide anterior fontanel Autism Hypertension Webbed neck Midface retrusion Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Low posterior hairline Poor speech Adrenocortical cytomegaly Redundant skin Arnold-Chiari type I malformation Prominent nose Congenital diaphragmatic hernia Cardiomegaly Nephrolithiasis Relative macrocephaly Hypercalciuria Prominent occiput Mitral regurgitation Prominent metopic ridge Neurofibromas Gonadoblastoma Ureteral duplication Patent foramen ovale Failure to thrive in infancy Adrenocortical carcinoma Arnold-Chiari malformation Hypermetropia Hyperreflexia Broad palm Myopia Brachydactyly Foot polydactyly Teratoma Feeding difficulties Expressive language delay Congenital hypothyroidism Abnormality of the cerebral ventricles Delayed cranial suture closure Cavum septum pellucidum Overweight Abdominal distention Self-mutilation Postaxial polydactyly Nephroblastomatosis Pain Respiratory distress Short nose Intellectual disability, moderate Periventricular leukomalacia Clinodactyly Optic atrophy Stereotypy Ventriculomegaly Prominent forehead Ventricular hypertrophy Pes planus Carcinoma Aggressive behavior Joint laxity Respiratory tract infection Otitis media Poor coordination Facial asymmetry Small nail Heterotopia Lymphedema Abnormal cardiac septum morphology Pointed chin Narrow palate Large hands Hypogonadism Postnatal growth retardation Nonimmune hydrops fetalis Hypertrichosis Congestive heart failure Abnormality of the dentition Thick vermilion border Triangular face Flared iliac wings Tetralogy of Fallot Long philtrum Hydrocephalus Dilatation Anteverted nares Hypoplasia of the corpus callosum Abnormality of the genital system Hypoplasia of penis Cafe-au-lait spot Abnormality of the skeletal system Spina bifida occulta Syndactyly Intrauterine growth retardation Anterior creases of earlobe Bifid uvula Wide intermamillary distance Generalized hirsutism Cutis laxa Scrotal hypoplasia Intestinal malrotation Abnormality of the skin Abnormality of the ribs Camptodactyly of finger Short foot Broad thumb Hamartoma Microtia Cleft upper lip Lower limb asymmetry Blepharophimosis Prune belly Left ventricular hypertrophy Abdominal wall defect Abnormality of earlobe Abnormality of the outer ear Failure to thrive Aplasia/Hypoplasia of the abdominal wall musculature Supernumerary nipple Low hanging columella Deeply set eye Shield chest Dysphagia Abnormality of the ear Narrow palpebral fissure EEG abnormality Bundle branch block Tethered cord Abnormal lung lobation Coloboma Myelodysplasia Multiple lentigines Abnormality of the voice Melanocytic nevus Premature birth Redundant neck skin Macule Polyphagia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Cervical ribs High hypermetropia Hypercholesterolemia Pancreatic islet-cell hyperplasia Sacral dimple Increased IgE level Hypermelanotic macule Congenital sensorineural hearing impairment Hand polydactyly Self-injurious behavior Renal neoplasm Furrowed tongue Clitoral hypertrophy Abnormality of the helix Pyloric stenosis Abnormality of vision Duodenal atresia Chordee Polysplenia Ankyloglossia Hemiplegia/hemiparesis Metatarsus adductus Delayed gross motor development Broad foot Dysphasia Infantile muscular hypotonia Abnormality of the cerebral white matter Broad secondary alveolar ridge Cranial nerve paralysis Kyphosis Hip dysplasia Delayed myelination Muscle weakness Brain atrophy Hepatic steatosis Polymicrogyria Visual impairment Gait disturbance Myopathy Oral cleft Malar flattening Abnormal blistering of the skin Cerebral atrophy Absent speech Pes cavus Infantile spasms Micropenis Synophrys Camptodactyly Abnormality of the eye Joint stiffness Abnormality of the liver Small for gestational age Epileptic encephalopathy Optic disc pallor Meckel diverticulum Birth length greater than 97th percentile Broad toe Abnormal intestine morphology Spastic tetraparesis Short phalanx of finger Penoscrotal hypospadias Short 2nd finger Short sacroiliac notch 2-3 finger syndactyly Telangiectasia Narrow sacroiliac notch Dilated cardiomyopathy Penoscrotal transposition Hypsarrhythmia Duplication of renal pelvis Six lumbar vertebrae Submucous cleft lip Cleft lower lip Cyst of the ductus choledochus Decreased body weight Pachygyria Depressed nasal ridge Two carpal ossification centers present at birth Tetraparesis Interphalangeal joint contracture of finger Cerebral cortical atrophy Abnormal external genitalia Abnormal heart valve morphology Exotropia Short attention span Hypoplastic iliac wing Capillary hemangioma Obstructive sleep apnea Patellar dislocation Shawl scrotum Dislocated radial head Congenital glaucoma Truncal obesity Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Low anterior hairline Dental crowding Dyslexia Long eyelashes Aganglionic megacolon Convex nasal ridge Hypoplasia of the maxilla Recurrent fractures Single transverse palmar crease Highly arched eyebrow Iris coloboma Hirsutism Thick eyebrow Unsteady gait Thin upper lip vermilion Retrognathia Glaucoma Meningioma Abnormality of refraction Flexion contracture Dyscalculia Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Chorioretinal dystrophy Avascular necrosis of the capital femoral epiphysis Facial grimacing Pheochromocytoma Medulloblastoma Abnormal cornea morphology Nasolacrimal duct obstruction Broad distal phalanx of finger Phonophobia Abnormality of the cervical spine Keloids Parietal foramina Short upper lip Bimanual synkinesia Frontal upsweep of hair Prominent fingertip pads Duane anomaly Immunodeficiency Agenesis of the anterior commissure Abnormality of the immune system Optic nerve coloboma Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Abnormality of the neck Abnormality of the gastrointestinal tract Abnormality of chromosome stability Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Epileptic spasms Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Anteriorly placed anus Slender long bone Telangiectasia of the skin Absent septum pellucidum Biliary tract abnormality Abnormal corpus callosum morphology Solitary renal cyst Noncompaction cardiomyopathy Abnormality of the renal pelvis Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Cranial nerve VI palsy Impaired social interactions Abnormality of brain morphology Lambdoidal craniosynostosis Abnormality of female external genitalia Abnormality of the mandible Gastric ulcer Abnormality of the anus Abnormality of the optic disc Aortic arch aneurysm Abnormal social behavior Annular pancreas Muscle flaccidity Hypoplastic labia minora Horizontal eyebrow Abnormality of digit Talipes valgus Transposition of the great arteries Headache Vertebral fusion Polycythemia Branchial cyst Infra-orbital crease Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Choroideremia Asymmetric growth Pseudohypoparathyroidism Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Neurodevelopmental delay Congenital megaureter Sleep apnea Nephropathy Long face Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Abnormal mitral valve morphology Large placenta Abnormality of pancreas morphology Right ventricular hypertrophy Reduced number of teeth Overbite Abnormal glucose tolerance Oxycephaly Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Acute lymphoblastic leukemia Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Precocious puberty Abnormal dermatoglyphics Abnormality of the shape of the midface Narrow face Abnormal vertebral morphology Apraxia Sloping forehead Renal agenesis Hypodontia Genu valgum Dolichocephaly Jaundice Macrotia Subchorionic septal cyst Large intestinal polyposis Wolff-Parkinson-White syndrome Premature skin wrinkling Hyperplasia of the maxilla Severe global developmental delay Abnormality of the musculature Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Thickened skin Short palpebral fissure Febrile seizures Full cheeks Microcornea Flat face Retinopathy Hypoplastic nipples Telecanthus High forehead Microphthalmia Motor delay Postauricular pit Auricular pit Skin tags Abnormality of the vasculature Central hypotonia Syringomyelia Psoriasiform dermatitis Apnea Cerebellar vermis atrophy Irregular hyperpigmentation Sprengel anomaly Myocardial infarction Severe sensorineural hearing impairment Curly hair Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility External genital hypoplasia Bilateral cryptorchidism Hyperextensible skin Melanoma Scapular winging Subcutaneous nodule Mitral valve prolapse External ear malformation Specific learning disability Joint hyperflexibility Delayed puberty Pectus carinatum Hyperkeratosis Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Hamartomatous polyposis Sacrococcygeal teratoma Vertebral segmentation defect Superior pectus carinatum Talipes equinovarus Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Amegakaryocytic thrombocytopenia Blindness Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Synovitis Restrictive cardiomyopathy Atrial flutter Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Intellectual disability, severe Cleft lip Male infertility Cerebral visual impairment Prolonged QT interval Hydroureter Bilateral talipes equinovarus Preauricular pit Cupped ear Abnormality of the hand Multicystic kidney dysplasia Congenital hip dislocation Cardiac arrest Hoarse voice Short toe Preauricular skin tag Renal dysplasia Irritability Cerebellar vermis hypoplasia Postaxial hand polydactyly Nail dysplasia Broad nasal tip Retinal detachment Wide nose Short distal phalanx of finger Short palm Thin vermilion border Toe syndactyly Congenital cataract Finger syndactyly Abnormality of the vertebral column Cystic hygroma Gray matter heterotopias Aniridia Abdominal mass Opsoclonus Ganglioneuroma Flank pain Renal cortical cysts Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Hypoplasia of the thymus Ketosis Protuberant abdomen Tibial bowing Vitreomacular adhesion Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Nephrocalcinosis Recurrent urinary tract infections Postural instability Pulmonary hypoplasia Attention deficit hyperactivity disorder Respiratory failure Myoclonus Respiratory insufficiency Small cell lung carcinoma Thymus hyperplasia Overgrowth of external genitalia Abnormality of color vision Abnormal bleeding Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Elevated alkaline phosphatase Pterygium Poor suck Azoospermia Plagiocephaly Amblyopia Primary amenorrhea Amenorrhea Bruising susceptibility Pancreatic hyperplasia Hypotrichosis Broad forehead Sparse hair Kyphoscoliosis Abdominal pain Rod-cone dystrophy Thrombocytopenia Vomiting Fever Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Plantar crease between first and second toes



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 Urinary incontinence, related diseases and genetic alterations Delayed speech and language development and High forehead, related diseases and genetic alterations Obesity and Epicanthus, related diseases and genetic alterations Cardiomyopathy and Skeletal dysplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more