Cryptorchidism, and Gliosis

Diseases related with Cryptorchidism and Gliosis

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


Top matches:

Medium match LAURIN-SANDROW SYNDROME


Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Medium match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Medium match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

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Other less relevant matches:

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match FRYNS SYNDROME


Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Medium match GLIOMA SUSCEPTIBILITY 3; GLM3


Related symptoms:

  • Seizures
  • Neoplasm
  • Cryptorchidism
  • Leukemia
  • Cafe-au-lait spot


SOURCES: OMIM MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 3; GLM3

Medium 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Gliosis

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Low-set ears Wide nasal bridge Cerebellar hypoplasia High palate Hypertelorism Delayed myelination Ventricular septal defect Delayed speech and language development Hyperreflexia Strabismus Downslanted palpebral fissures Micropenis Long philtrum Agenesis of corpus callosum Failure to thrive Cataract Flexion contracture Atrial septal defect Macrotia Camptodactyly Blepharophimosis Hypertonia Muscular hypotonia of the trunk Wide intermamillary distance Leukemia Growth delay Hypoplasia of the corpus callosum Muscular hypotonia

Rare Symptoms - Less than 30% cases


Macrocephaly Cerebral cortical atrophy Broad forehead Abnormality of the cerebral white matter Sepsis Ambiguous genitalia Osteoporosis Hypospadias Pointed chin Specific learning disability Decreased testicular size Esophageal atresia Respiratory distress Lacrimal duct stenosis Pulmonary hypoplasia Talipes equinovarus Short neck Hearing impairment Spasticity Abnormality of the face Motor delay Heterotopia Depressed nasal ridge Short stature Retrognathia Prominent nose Severe global developmental delay Prominent nasal bridge Microphthalmia Scoliosis Hernia Neoplasm Sloping forehead Acute lymphoblastic leukemia Abnormal facial shape Myoclonus Cafe-au-lait spot Dilatation Prominent forehead Optic atrophy Epicanthus Depressed nasal bridge Muscle weakness Nystagmus Broad neck Hydrocephalus Postaxial polydactyly Thin vermilion border Ptosis Thin upper lip vermilion Abnormality of the dentition Posteriorly rotated ears Absent speech Malar flattening Dystonia Narrow palpebral fissure Abnormality of the skeletal system Cerebral calcification Aganglionic megacolon Joint contracture of the hand Intrauterine growth retardation Pterygium Intellectual disability, profound Rocker bottom foot Hydronephrosis Abnormality of the nervous system Corneal opacity Cleft lip Vesicoureteral reflux Coarctation of aorta Congenital diaphragmatic hernia Limb undergrowth Tetralogy of Fallot Dandy-Walker malformation Renal agenesis Premature birth Intestinal malrotation Renal cyst Low-set, posteriorly rotated ears Single transverse palmar crease Short distal phalanx of finger Cleft upper lip Anal atresia Narrow chest Gastroesophageal reflux Abnormal cardiac septum morphology Wide mouth Abnormality of the eye Coarse facial features Astrocytoma Polyhydramnios Acute myeloid leukemia Ridged nail Aplastic anemia Oral leukoplakia Chromosome breakage Blepharitis Premature loss of teeth Hodgkin lymphoma Generalized hyperpigmentation Myeloid leukemia Excessive wrinkled skin Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Flared metaphysis Squamous cell carcinoma Epiphora Neonatal respiratory distress Testicular atrophy Esophageal stricture Clinodactyly of the 5th finger Pterygium of nails Areflexia Clinodactyly Abnormality of cardiovascular system morphology Blindness Edema Anteverted nares Choanal atresia Cleft palate Anal mucosal leukoplakia Split nail Keratoconjunctivitis Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Small nail Anophthalmia Pectus excavatum of inferior sternum Ureteral duplication Gastroschisis Arrhinencephaly Aplasia cutis congenita of scalp Low posterior hairline Chylothorax Abnormal aortic morphology Absent nipple Interrupted aortic arch Bifid nose Meckel diverticulum Relative macrocephaly Cubitus valgus Neurofibromas Freckling Cystic renal dysplasia Aplasia/Hypoplasia of the nipples Multiple cafe-au-lait spots Ovarian cyst Abnormality of the helix Shortening of all distal phalanges of the fingers Gastroparesis Bicornuate uterus Broad clavicles Nephroblastoma Hypoplasia of the optic tract Ectopic pancreatic tissue Absent left hemidiaphragm Postaxial oligodactyly Hypoplasia of olfactory tract Facial hirsutism Abnormal aortic arch morphology Medulloblastoma Prominent fingertip pads Glioblastoma multiforme Few cafe-au-lait spots Midface retrusion Urethral stricture Telecanthus Bilateral choanal atresia Pulmonic stenosis Webbed neck Abnormality of the diaphragm Secundum atrial septal defect Broad ribs Omphalocele Proximal placement of thumb Prominent nasolabial fold Hypoplasia of the uterus Optic nerve glioma Thoracic hypoplasia Hydroureter Anonychia Large for gestational age Bifid scrotum Tented upper lip vermilion Superior pectus carinatum Abnormality of the genitourinary system Abnormality of the outer ear Microretrognathia Opacification of the corneal stroma Finger clinodactyly Multicystic kidney dysplasia Short thumb Amblyopia Renal dysplasia Non-midline cleft lip Partial agenesis of the corpus callosum Hypoplastic fingernail Bilateral cleft lip Duodenal atresia Ectopic anus Asplenia Abnormality of finger Retinal dysplasia Bilateral cleft lip and palate Polysplenia Truncus arteriosus Thickened nuchal skin fold Cystic hygroma Median cleft lip Overweight Shawl scrotum Oligodactyly Atrophy/Degeneration affecting the brainstem Lisch nodules Hypoplastic nipples Axillary freckling Thin ribs Myelodysplasia Congenital muscular dystrophy Dermal atrophy High forehead Hypohidrosis Chronic diarrhea Postnatal microcephaly Pachygyria Hypoplasia of penis Malabsorption Feeding difficulties in infancy Respiratory failure Lissencephaly Hyperactivity Patent ductus arteriosus Diarrhea Mild intrauterine growth retardation Periorbital fullness Long fingers Sparse eyebrow Thick lower lip vermilion Wide anterior fontanel Infantile spasms Facial asymmetry Inguinal hernia Convex nasal ridge Focal-onset seizure Triangular face Polymicrogyria Bulbous nose Protruding ear Hypertrophic cardiomyopathy Pneumonia Congestive heart failure Exocrine pancreatic insufficiency Cardiomyopathy Type I lissencephaly Temperature instability Abnormality of temperature regulation Duane anomaly Long upper lip Hydranencephaly Profound global developmental delay Waddling gait Craniosynostosis Focal impaired awareness seizure Aplasia/Hypoplasia of the corpus callosum Hallux valgus Short middle phalanx of finger Preaxial hand polydactyly Triphalangeal thumb Hand polydactyly Preaxial polydactyly Abnormality of the metacarpal bones Underdeveloped nasal alae Aplasia/Hypoplasia of the thumb Limitation of joint mobility Short foot Downturned corners of mouth Talipes Toe syndactyly Finger syndactyly Polydactyly Syndactyly Tarsal synostosis Absent radius Abnormality of the pinna Fibular duplication Joint laxity Anxiety Hypothyroidism Behavioral abnormality Tremor Feeding difficulties Cognitive impairment Mirror image polydactyly Limb duplication Broad foot Rudimentary to absent tibiae Premature atrial contractions Absent tibia Patellar aplasia Abnormality of the nose Preaxial foot polydactyly Abnormality of the wrist Short columella Cutis laxa Mask-like facies Anosmia Anemia Hepatosplenomegaly Hyperhidrosis Alopecia Hyporeflexia Thrombocytopenia Immunodeficiency Visual impairment Ataxia Postnatal growth retardation Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Osteopetrosis Abnormality of the ear Knee flexion contracture Coxa valga Carcinoma Small for gestational age Insulin resistance Telangiectasia Abnormal intestine morphology Leukopenia Sparse eyelashes Conjunctivitis Horseshoe kidney Bone marrow hypocellularity Truncal ataxia Hyperpigmentation of the skin Sparse scalp hair Nail dystrophy Pancytopenia Decreased fetal movement Oligohydramnios Gastrointestinal hemorrhage Hypopigmentation of the skin Cirrhosis Abnormality of skin pigmentation Carious teeth Elbow flexion contracture Cutaneous photosensitivity Right bundle branch block Apnea Hypergonadotropic hypogonadism Fasciculations Progressive microcephaly Esotropia Nevus Chorea Spastic paraplegia Irritability Upslanted palpebral fissure Prominent supraorbital ridges Hypogonadism Cerebral atrophy Narrow naris Wide nasal base Cavum septum pellucidum Entropion Disproportionate tall stature Bundle branch block Oculomotor apraxia Clitoral hypertrophy Peripheral demyelination Kyphosis Neuronal loss in central nervous system Neurodegeneration Hirsutism Congenital cataract Arthrogryposis multiplex congenita Muscular dystrophy Deeply set eye Kyphoscoliosis Intellectual disability, severe Hypoplasia of the brainstem Sensorineural hearing impairment Olivopontocerebellar hypoplasia Microphallus Sex reversal Thick upper lip vermilion Hypoplasia of the pons Nevus flammeus Flat occiput Inguinal freckling



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