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.
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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
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
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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
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
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
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
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
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
|
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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
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Intellectual disability, severe and Cerebellar vermis hypoplasia, related diseases and genetic alterations
Delayed speech and language development and Craniosynostosis, related diseases and genetic alterations
Obesity and Epicanthus, related diseases and genetic alterations
Cardiomyopathy and Myocardial infarction, related diseases and genetic alterations
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