Cryptorchidism, and Low-set ears

Diseases related with Cryptorchidism and Low-set ears

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


Top matches:

High match MEIER-GORLIN SYNDROME 8; MGORS8


Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Ptosis
  • Low-set ears
  • Narrow mouth


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 8; MGORS8

High match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

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 16P13.2 MICRODELETION SYNDROME


16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION 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

High match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

High match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

High match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

High match MEIER-GORLIN SYNDROME 4; MGORS4


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

Top 5 symptoms//phenotypes associated to Cryptorchidism and Low-set ears

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Low-set ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Strabismus Agenesis of corpus callosum Frontal bossing

Rare Symptoms - Less than 30% cases


Generalized hypotonia Delayed skeletal maturation Patent ductus arteriosus Feeding difficulties Scrotal hypoplasia Seizures Ambiguous genitalia Micromelia Deeply set eye Cleft palate Hydrocephalus Microphthalmia Intrauterine growth retardation Hypospadias Retrognathia Low-set, posteriorly rotated ears Micropenis Adrenal hypoplasia Narrow mouth Midface retrusion Cleft lip Microtia Upslanted palpebral fissure Ptosis Ulnar deviation of the hand or of fingers of the hand Adrenocortical hypoplasia Loss of consciousness Pathologic fracture Ketoacidosis Episodic vomiting Congenital adrenal hypoplasia Hyperglycerolemia Increased urinary glycerol Hyperlipidemia Nystagmus Labial hypoplasia Patellar aplasia Depressed nasal bridge Hypoplastic labia majora Adrenal insufficiency Hypertriglyceridemia Growth delay Breast hypoplasia Microphallus Myopathy Vomiting Osteoporosis Diabetes mellitus Lateral clavicle hook Acidosis Coma Hypoglycemia Small for gestational age Muscular dystrophy Lethargy Ulnar deviation of the hand Metabolic acidosis Downturned corners of mouth Pterygium Relative macrocephaly Microcephaly Failure to thrive Agenesis of cerebellar vermis Bifid nose Flexion contracture Scoliosis Motor delay Macrocephaly Penoscrotal hypospadias Thick lower lip vermilion Prominent forehead Feeding difficulties in infancy Unilateral cryptorchidism Small hand Triangular face Decreased body weight Melanocytic nevus Finger clinodactyly Hypoplasia of the maxilla Emphysema Thoracic scoliosis Intellectual disability, moderate Anteverted nares Abnormality of the dentition Intellectual disability, mild Alopecia Hypogonadism Brachycephaly Telecanthus Underdeveloped nasal alae Slender long bone Oligohydramnios Fine hair Encephalocele Shield chest Coronal craniosynostosis Calvarial skull defect Conical tooth Broad philtrum Genu recurvatum Syndactyly Barrel-shaped chest Prolonged bleeding time Dysphagia Hypertrophic cardiomyopathy Pulmonic stenosis Webbed neck Specific learning disability Abnormality of the face Abnormality of the thorax Multiple cafe-au-lait spots Hyponasal speech Abnormality of the helix Abnormality of the lymphatic system Abdominal wall muscle weakness Muscular hypotonia Delayed speech and language development Absent speech Clinodactyly of the 5th finger Autism Downslanted palpebral fissures Palate fistula Autistic behavior Single transverse palmar crease Thick vermilion border Renal hypoplasia Bilateral cryptorchidism Epicanthus Hernia Protruding ear Bulbous nose Sparse eyelashes Agenesis of lateral incisor Sparse eyebrow Ectropion Bilateral cleft lip Bilateral cleft lip and palate High anterior hairline Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Aggressive behavior Apraxia Depressed nasal tip Malar flattening Abnormality of the fallopian tube Tracheal atresia Gingival cleft Brachydactyly Wide nasal bridge Abnormality of the skeletal system Ventriculomegaly Polydactyly Unilateral cleft lip Abnormality of the pinna Cleft upper lip Oral cleft Postaxial polydactyly Wide intermamillary distance Sandal gap Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Abnormality of the sense of smell Arrhinencephaly Large fontanelles Abnormality of cardiovascular system morphology Trigonocephaly Hallux valgus Delayed cranial suture closure Speech apraxia Perseveration Central sleep apnea Premature adrenarche Polyhydramnios Abnormality of the respiratory system Bifid uvula Premature birth Postaxial hand polydactyly Laryngomalacia Anophthalmia Absent septum pellucidum Submucous cleft hard palate Anencephaly Birth length less than 3rd percentile



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