Cryptorchidism, and Hypertrichosis

Diseases related with Cryptorchidism and Hypertrichosis

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

Top matches:

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hypertrichosis

Symptoms // Phenotype % cases
Synophrys Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

High palate Nystagmus Hypertelorism Generalized hypotonia Hyperactivity Upslanted palpebral fissure Scoliosis Thin upper lip vermilion Microcephaly Visual impairment Abnormal facial shape Low anterior hairline Low-set ears Downturned corners of mouth Autism Aggressive behavior Long philtrum Thick eyebrow Poor speech Neonatal hypotonia Cleft palate Broad nasal tip Feeding difficulties Depressed nasal bridge Autistic behavior Hearing impairment Slender finger Myopia Anteverted nares Hypospadias

Rare Symptoms - Less than 30% cases

Tapered finger Cavum septum pellucidum Short stature Coloboma Obsessive-compulsive behavior Macrotia Motor delay Broad-based gait Ptosis Constipation Prominent nasal bridge Hirsutism Deeply set eye Highly arched eyebrow Wide intermamillary distance Dental crowding Inguinal hernia Diastema Astigmatism Short philtrum Unilateral cryptorchidism Micrognathia Anxiety Smooth philtrum Long eyelashes Absent speech Hypermetropia Downslanted palpebral fissures Polydactyly Cleft lip Prominent supraorbital ridges Long toe Sensorineural hearing impairment Epicanthus Wide nasal bridge Pes planus Behavioral abnormality Wide mouth Abnormal cardiac septum morphology Hypoplastic labia majora Anosmia Reduced number of teeth Limb-girdle muscular dystrophy Anophthalmia Preauricular pit Agenesis of permanent teeth Lacrimation abnormality Hyposmia Hypogonadotrophic hypogonadism Hypoplasia of teeth Atrial septal defect Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Scrotal hypoplasia Choanal atresia Encephalocele Corneal opacity Microphthalmia Midface retrusion Hernia Hypogonadism Micropenis Intellectual disability, mild Volvulus Single umbilical artery Muscular dystrophy Delayed puberty Iris coloboma Hypoplasia of the maxilla Dental malocclusion Primary amenorrhea Frontal encephalocele Aplasia of the nose Abnormality of the pinna Limb joint contracture Renal hypoplasia/aplasia Overlapping toe Abnormality of the hip bone Infantile spasms Abnormally large globe Abnormal hair pattern Broad alveolar ridges Intestinal malrotation Hyperconvex nail Dysarthria Gait disturbance Ventriculomegaly Bulbous nose Cerebellar hypoplasia Lissencephaly High myopia Absent paranasal sinuses Coarse facial features Spasticity Flexion contracture Optic atrophy Edema Agenesis of corpus callosum Cerebral cortical atrophy Protruding ear Broad thumb Severe global developmental delay Tetraplegia Spastic tetraplegia Abnormality of the genital system Renal dysplasia Generalized hirsutism Intellectual disability, progressive Intellectual disability, severe Delayed gross motor development Cataract Growth delay Underdeveloped nasal alae Intrauterine growth retardation Broad hallux Short columella Bilateral cleft lip and palate Curly eyelashes Bilateral cleft lip Single transverse palmar crease Thoracic kyphosis Abnormality of the skeletal system Preaxial hand polydactyly Kyphosis Large hands Brachycephaly Prominent nose Acidosis Preaxial polydactyly Delayed ability to walk Neutropenia Generalized myoclonic seizures Epileptic encephalopathy Hypsarrhythmia Status epilepticus Cerebral visual impairment Enlarged cisterna magna Postaxial polydactyly Hyperreflexia Anemia Proximal renal tubular acidosis Narrow mouth Renal tubular acidosis Narrow chest Metabolic acidosis Hyperlordosis Drooling Horizontal eyebrow Thick vermilion border High forehead Oral cleft Blepharophimosis Attention deficit hyperactivity disorder Thin vermilion border Joint hypermobility Round face Obesity Stereotypy Insulin resistance Cafe-au-lait spot Generalized tonic-clonic seizures Easy fatigability Polycystic ovaries Impulsivity Clinodactyly Syndactyly Impaired mastication Pectus carinatum Macrocephaly Nasal speech Low posterior hairline Sloping forehead Developmental regression Decreased testicular size Delayed myelination Short nose Open mouth Self-injurious behavior Chronic constipation Lumbar scoliosis Asymmetry of the ears Long face Cleft upper lip Speech apraxia


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