Cryptorchidism, and Pulmonic stenosis

Diseases related with Cryptorchidism and Pulmonic stenosis

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


Top matches:

High match NOONAN SYNDROME 9; NS9


Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

High match NOONAN SYNDROME 10; NS10


Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 10; NS10

High match NEUROFIBROMATOSIS-NOONAN SYNDROME


Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

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Other less relevant matches:

High match NOONAN SYNDROME 6; NS6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

High match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

High match NOONAN SYNDROME 4; NS4


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

High match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

High match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

High match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

High match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Cryptorchidism and Pulmonic stenosis

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Webbed neck Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Short neck Curly hair Hypertrophic cardiomyopathy Delayed speech and language development Epicanthus Abnormal cardiac septum morphology Scoliosis Abnormal facial shape Intellectual disability Atrial septal defect Ventricular septal defect Global developmental delay Low-set ears Depressed nasal bridge Leukemia Relative macrocephaly Abnormal heart morphology Broad forehead Hyperkeratosis Sparse and thin eyebrow Abnormality of the sternum

Rare Symptoms - Less than 30% cases


Acute lymphoblastic leukemia Cafe-au-lait spot Malar flattening Broad neck Long philtrum Midface retrusion Low posterior hairline Thin upper lip vermilion Thick lower lip vermilion Ventricular hypertrophy Muscle weakness Neurofibromas Failure to thrive Thin vermilion border Hyperpigmentation of the skin Posteriorly rotated ears Polyhydramnios Wide intermamillary distance Cubitus valgus Pectus excavatum of inferior sternum Patent ductus arteriosus Abnormality of cardiovascular system morphology Sparse hair Prolonged bleeding time Abnormality of coagulation Hearing impairment Low-set, posteriorly rotated ears Wide nasal bridge Growth delay Multiple cafe-au-lait spots Specific learning disability Sparse eyebrow Coarctation of aorta Cardiomyopathy Edema Intellectual disability, mild Chylothorax Palmoplantar cutis laxa Graves disease Pleural effusion Systemic lupus erythematosus Cleft palate Hyperextensible skin High iliac wings Left ventricular hypertrophy Abnormality of the cardiovascular system Sutural cataract Inguinal freckling Cognitive impairment Posterior wedging of vertebral bodies Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Telecanthus Punctate cataract Freckling Secundum atrial septal defect Posterior Y-sutural cataract Lisch nodules Axillary freckling Superior pectus carinatum Prominent nasolabial fold Optic nerve glioma High palate Cataract Anteverted nares Optic atrophy Hypoplasia of the maxilla Smooth philtrum Abnormality of skin pigmentation Wide nose Delayed eruption of teeth Prominent supraorbital ridges Endocarditis Bifid uvula Joint hyperflexibility Prominent nose Esotropia Microdontia Coarse hair Large fontanelles Wide anterior fontanel Brittle hair Carious teeth Narrow iliac wings Decreased skull ossification Hypoplasia of teeth Frontal bossing Hemangioma Prominent forehead Gastroesophageal reflux Delayed closure of the anterior fontanelle Capillary hemangioma Narrow chest Premature loss of teeth Osteopenia Skeletal dysplasia Pes planus Joint laxity Wide mouth Prominent nasal bridge Overriding aorta Clinodactyly of the 5th finger Abnormal nasal morphology Overgrowth Juvenile myelomonocytic leukemia Ataxia Strabismus Autistic behavior Pectus carinatum Broad nasal tip Tall stature Asymmetry of the thorax Accelerated skeletal maturation Optic nerve hypoplasia Large for gestational age Speech apraxia Unilateral cryptorchidism Abnormal pulmonary valve morphology Long eyebrows Bilateral ptosis Aplasia/Hypoplasia of the optic nerve Abnormality of the thorax Mild short stature Hyperkeratosis pilaris Mitral stenosis Schwannoma Dysphagia Abnormality of the face Abnormality of the helix Growth hormone deficiency Abnormality of the lymphatic system Abdominal wall muscle weakness Generalized hypotonia Sensorineural hearing impairment Motor delay Myopia High forehead Cranial asymmetry Dental malocclusion Right ventricular failure Underdeveloped supraorbital ridges Increased body weight Easy fatigability Clubbing Heart murmur Preauricular pit Polycythemia Poor appetite Hemiparesis Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Sinusitis Tetralogy of Fallot Bilateral cryptorchidism Congestive heart failure Blue irides High anterior hairline Anemia Brachydactyly Intrauterine growth retardation Respiratory distress Clinodactyly Cyanosis Arrhythmia Recurrent respiratory infections Proptosis Dyspnea Respiratory tract infection Paralysis Dolichocephaly Forehead hyperpigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Recurrent fractures, related diseases and genetic alterations Hyperreflexia and Short philtrum, related diseases and genetic alterations Myopathy and Thick lower lip vermilion, related diseases and genetic alterations Epicanthus and Abnormality of the ribs, related diseases and genetic alterations

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