Cryptorchidism, and Microtia

Diseases related with Cryptorchidism and Microtia

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


Top matches:

Medium 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

Medium match DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14


Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Mendelian

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

Learn more

Other less relevant matches:

Medium 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

Medium match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Medium match MEIER-GORLIN SYNDROME 5; MGORS5


Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Medium match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Medium match NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION


NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


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).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Microtia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Narrow mouth Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Delayed speech and language development Cleft palate Short stature Motor delay Abnormal facial shape Seizures Generalized hypotonia Feeding difficulties Midface retrusion Downslanted palpebral fissures Hearing impairment

Rare Symptoms - Less than 30% cases


Craniosynostosis Hypoplasia of the maxilla Slender long bone Pectus excavatum Microcornea Patellar aplasia Birth length less than 3rd percentile High palate Wide nasal bridge Tapered finger Brachycephaly Gastroesophageal reflux Poor speech Anal atresia Wide intermamillary distance Pes planus Overfolded helix Prominent metopic ridge Broad neck Microphthalmia Neurological speech impairment Delayed skeletal maturation Cataract Micropenis Microdontia Underdeveloped nasal alae Hypertelorism Epicanthus Ptosis Absent speech Posteriorly rotated ears Thick vermilion border Scoliosis Intrauterine growth retardation Failure to thrive Prominent supraorbital ridges Postaxial polydactyly Downturned corners of mouth Decreased muscle mass Emotional lability Hypogonadotrophic hypogonadism Hip dysplasia Overlapping toe Open mouth Long palpebral fissure Sacral dimple Bicuspid aortic valve Oligodontia Long face Retrognathia Truncal obesity Constipation Tetraamelia Aplasia/Hypoplasia involving the pelvis Pain Abnormality of the skeletal system Ventricular septal defect Hyporeflexia Hyperactivity Inverted nipples Polydactyly Abnormal cardiac septum morphology Uplifted earlobe Attention deficit hyperactivity disorder Malar prominence Misalignment of teeth Dolichocephaly Gynecomastia Thickened nuchal skin fold Short palm Hypogonadism Pes cavus Obesity Kyphosis Muscular hypotonia Thin upper lip vermilion Ureterocele Scrotal hypoplasia Short palpebral fissure Deeply set eye Septo-optic dysplasia Hypermetropia Delayed puberty Thick eyebrow Flat face Sparse lateral eyebrow Osteopenia Wide nasal ridge Short neck Hypoplasia of the corpus callosum Specific learning disability Hypospadias Upslanted palpebral fissure Decreased testicular size Small hand Broad nasal tip Low-set, posteriorly rotated ears Abnormality of the pinna Blepharophimosis Carious teeth Short foot Aplasia/Hypoplasia involving the nose Mild global developmental delay Abnormally ossified vertebrae Labial hypoplasia Patent ductus arteriosus Thick lower lip vermilion Emphysema Thoracic scoliosis Genu recurvatum Hypoplastic labia majora Breast hypoplasia Febrile seizures Lateral clavicle hook Talipes equinovarus Syndactyly Cerebellar hypoplasia Short philtrum Narrow chest Talipes Tall stature Facial asymmetry Choanal atresia Macrocytic anemia Renal hypoplasia Bilateral cryptorchidism Anemia Conductive hearing impairment Sparse eyelashes Atresia of the external auditory canal Unilateral cryptorchidism Abnormality of the foot Macrocephaly Frontal bossing Ventriculomegaly Immunodeficiency Autism Proptosis Autistic behavior Hirsutism Wide anterior fontanel Aplasia/Hypoplasia of the nipples Iris coloboma Irregular femoral epiphysis Optic atrophy Hydrocephalus Agenesis of corpus callosum Polyhydramnios Oral cleft Abnormality of the ribs Small earlobe Multicystic kidney dysplasia Abnormal lung lobation Aplasia/Hypoplasia of the lungs Missing ribs Tracheal stenosis Abnormality of the larynx Vaginal atresia Toe clinodactyly Hypoplasia of the capital femoral epiphysis Generalized hirsutism Asplenia Cutaneous syndactyly Cupped ear Bilateral talipes equinovarus Long fingers Short clavicles Short columella Widow's peak Irregular epiphyses Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Long philtrum Clinodactyly Triangular face Elbow dislocation Short ear



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Ophthalmoplegia, related diseases and genetic alterations Intellectual disability, severe and Short neck, related diseases and genetic alterations Optic atrophy and Progressive cerebellar ataxia, related diseases and genetic alterations Edema and Joint hypermobility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more