Cryptorchidism, and Intellectual disability, profound

Diseases related with Cryptorchidism and Intellectual disability, profound

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


Top matches:

High match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

High match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

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Other less relevant matches:

High match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

High match MATTHEW-WOOD SYNDROME


Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

High match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

High match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME


Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

High 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Intellectual disability, profound

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Intellectual disability, profound. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Muscular hypotonia Low-set ears Microphthalmia Hypertelorism Hearing impairment Failure to thrive Camptodactyly Flexion contracture Hypoplasia of the corpus callosum Intellectual disability, severe Agenesis of corpus callosum Ptosis Protruding ear Narrow mouth Cleft palate Short stature Myopathy Brachycephaly High palate Abnormal facial shape Scoliosis Kyphoscoliosis Micrognathia Malar flattening Blindness Macrotia Muscular hypotonia of the trunk Optic nerve hypoplasia Cerebellar hypoplasia Blepharophimosis Rocker bottom foot Muscle weakness Hypertonia Glaucoma Deeply set eye Cataract Hypoplasia of the brainstem Optic atrophy Intrauterine growth retardation Wide nasal bridge Patent ductus arteriosus Thin vermilion border

Rare Symptoms - Less than 30% cases


Inguinal hernia Severe muscular hypotonia Abnormality of the dentition Long philtrum Encephalocele Atrial septal defect Feeding difficulties Wide intermamillary distance Tented upper lip vermilion Respiratory insufficiency Bifid uvula Generalized myoclonic seizures Arthrogryposis multiplex congenita Hirsutism Delayed myelination Cerebellar vermis hypoplasia Autism Joint contracture of the hand Nasal speech Coarctation of aorta Congenital muscular dystrophy Macrocephaly Pneumonia Posteriorly rotated ears Hypogonadism Short nose Anxiety Neonatal hypotonia Remnants of the hyaloid vascular system Spasticity Knee flexion contracture Telecanthus Developmental regression Respiratory tract infection Neurodegeneration Autistic behavior Retinal dysplasia Anophthalmia Stereotypy Prominent nasal bridge Recurrent respiratory infections Pectus carinatum Megalocornea Downslanted palpebral fissures Oral cleft Retinopathy Epicanthus Congenital cataract Long hallux Depressed nasal bridge Muscular dystrophy Cerebral cortical atrophy Delayed speech and language development Diabetes mellitus Absent septum pellucidum Nystagmus Sensorineural hearing impairment Hypotelorism Poor head control Strabismus Hydronephrosis Hyperreflexia Cleft upper lip Corneal opacity Congenital contracture Severe global developmental delay Retinal detachment Talipes equinovarus Cleft lip Anteverted nares Absent speech Myopia Mandibular prognathia Ventriculomegaly Myoclonus Osteoporosis Hydrocephalus Abnormal vitreous humor morphology Skeletal muscle atrophy Corneal degeneration Posterior synechiae of the anterior chamber Phthisis bulbi Dilatation Hyporeflexia Elevated serum creatine phosphokinase Anterior chamber synechiae Neoplasm of the eye Abnormality of the diencephalon Uterine rupture Retinopathy of prematurity Abnormal cochlea morphology Deep longitudinal plantar crease Areflexia Aplasia/Hypoplasia of the lens Frontal bossing Vascular neoplasm Cutaneous photosensitivity Erectile abnormalities Confusion Intellectual disability, progressive Opacification of the corneal stroma Clonus Hallucinations Psychosis Migraine Sleep disturbance Retinal degeneration Delayed puberty Cachexia Attention deficit hyperactivity disorder Irritability Abnormality of the eye Aggressive behavior Abnormality of the nervous system EEG abnormality Dementia Visual loss Progressive hearing impairment Ectopia lentis Leukocoria Abnormality of the retinal vasculature Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Retinal fold Retinoblastoma Venous insufficiency Anterior synechiae of the anterior chamber Abnormal pupil morphology Abnormality of the helix Self-injurious behavior Vitreoretinopathy Sclerocornea Hypoplasia of the iris Severe vision loss Abnormality of immune system physiology Narrow nasal bridge Abnormal retinal morphology Aplasia/Hypoplasia of the cerebellum Abnormality of the vasculature Atresia of the external auditory canal Proptosis Full cheeks Scrotal hypoplasia Narrow palate Cerebral visual impairment Gingival overgrowth Hypertrichosis Hypsarrhythmia Narrow forehead Generalized-onset seizure Tapered finger Coxa valga Abnormality of the liver Elevated hepatic transaminase Jaundice Coarse facial features Osteopenia Obesity Abnormality of the skeletal system Abnormal aldolase level Abnormality of the ear CNS hypomyelination Aplasia/Hypoplasia involving the skeletal musculature Microalbuminuria Sloping forehead Cerebral calcification Peripheral demyelination Neuronal loss in central nervous system Prominent nose Gliosis Kyphosis Tented philtrum Primitive reflex Deep philtrum Thin bony cortex Prolonged neonatal jaundice Long palpebral fissure Pathologic fracture Cortical gyral simplification Insulin resistance Elbow flexion contracture Brisk reflexes Overfolded helix Thick cerebral cortex Hypoplastic male external genitalia Coloboma Pachygyria Long ear Submucous cleft hard palate Occipital encephalocele Congenital glaucoma Abnormality of neuronal migration Lissencephaly Renal dysplasia Heterotopia Hypoplasia of penis Miosis Specific learning disability Dandy-Walker malformation Microcornea Retinal dystrophy Iris coloboma Polymicrogyria Anal atresia Abnormality of the cerebral white matter Microtia Retinal atrophy Bilateral cleft lip Chorioretinal dysplasia Posterior fossa cyst Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Excessive daytime sleepiness Abnormal cortical gyration Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Osteopetrosis Muscle fiber splitting Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Peters anomaly Mild intrauterine growth retardation Behavioral abnormality Decreased muscle mass Small earlobe Hyperextensibility of the finger joints Slender build Epileptic spasms Slender finger Long fingers Disproportionate tall stature Sparse eyebrow Focal motor seizures Spontaneous abortion Narrow face Hyperpigmentation of the skin Dental crowding Tall stature Broad-based gait Thick lower lip vermilion High myopia Narrow palm Long palm Postural instability Rigidity Premature ovarian insufficiency Infantile muscular hypotonia Drooling Aspiration Lower limb spasticity Aganglionic megacolon Chorea Poor speech Gastroesophageal reflux Asymmetry of the ears Hypothyroidism Constipation Depressivity Abnormality of metabolism/homeostasis Midface retrusion Recurrent infections Dysphagia Ataxia Webbed neck Recurrent fractures Progressive spasticity Holoprosencephaly Aplasia/Hypoplasia of the radius Ectrodactyly Abnormality of digit Non-midline cleft lip Diabetes insipidus Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Split hand Central diabetes insipidus Ectodermal dysplasia Wide nose Craniosynostosis Low-set, posteriorly rotated ears Micropenis Hypospadias Syndactyly Hypermetropia Gonadotropin deficiency Semilobar holoprosencephaly High, narrow palate Abnormality of the pinna Bulbous nose Unsteady gait Arachnodactyly Smooth philtrum Abnormality of movement Facial asymmetry Synophrys Short philtrum Intellectual disability, moderate Hypernatremia Difficulty walking Pectus excavatum Gait disturbance Dysarthria Cognitive impairment Lobar holoprosencephaly Hypoplasia of the frontal bone Duplication of thumb phalanx Myotonia Poor eye contact Visual impairment Prominent forehead Dental malocclusion Flat face Talipes Hip dislocation Small for gestational age Postnatal growth retardation Arthritis Cerebellar atrophy Abnormality of the skin Short neck Fever Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Right aortic arch with mirror image branching Underdeveloped nasal alae Spina bifida occulta Pulmonary artery hypoplasia Dimple chin Neoplasm Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Breech presentation Adducted thumb Trismus Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rheumatoid arthritis Pterygium Bilateral lung agenesis Renal malrotation Hypoventilation Abnormality of cardiovascular system morphology Vesicoureteral reflux Pulmonary hypoplasia Pulmonic stenosis Abnormality of the kidney Respiratory failure Severe short stature Abnormal heart morphology Hernia Respiratory distress Tetralogy of Fallot Ventricular septal defect Hostility Infantile axial hypotonia Central hypoventilation Bruxism Chronic constipation Facial hypotonia Central hypotonia Intestinal malrotation Congenital diaphragmatic hernia Pelvic kidney Abnormality of the uterus Single ventricle Overriding aorta Annular pancreas Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Bicornuate uterus Pulmonary artery atresia Bilateral sensorineural hearing impairment Truncus arteriosus Hiatus hernia Hypoplasia of the uterus Abnormality of the genitourinary system Horseshoe kidney Abnormality of the genital system Abnormal lung morphology Renal hypoplasia Second metatarsal posteriorly placed



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