Cryptorchidism, and Unsteady gait
Diseases related with Cryptorchidism and Unsteady gait
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Unsteady gait that can help you solving undiagnosed cases.
Top matches:
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
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about SPONDYLO-OCULAR SYNDROME
Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli
Related symptoms:
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Muscular hypotonia
- Cryptorchidism
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about CEREBROFACIOTHORACIC DYSPLASIA
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE
Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.
RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES:
OMIM
MENDELIAN
More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.
MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm
Related symptoms:
- Intellectual disability
- Seizures
- Generalized hypotonia
- Muscle weakness
- Muscular hypotonia
SOURCES:
OMIM
MENDELIAN
More info about MYOTONIC DYSTROPHY 1; DM1
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq
Related symptoms:
- Global developmental delay
- Short stature
- Cryptorchidism
- Ptosis
- Epicanthus
SOURCES:
ORPHANET
MENDELIAN
More info about TRISOMY XQ28
IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3
Top 5 symptoms//phenotypes associated to Cryptorchidism and Unsteady gait
Symptoms // Phenotype |
% cases |
Generalized hypotonia |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Cryptorchidism and Unsteady gait. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Pectus excavatum
Cataract
Epicanthus
Motor delay
Microcephaly
Ptosis
Abnormal facial shape
Muscular hypotonia
Low-set ears
Pectus carinatum
Hearing impairment
Neonatal hypotonia
Pes planus
Dental crowding
Hypertelorism
Scoliosis
Cognitive impairment
Gait disturbance
Delayed speech and language development
Myopia
Absent speech
Polyhydramnios
Optic atrophy
Gastroesophageal reflux
Myopathy
Talipes equinovarus
Posteriorly rotated ears
Dilatation
Decreased fetal movement
Failure to thrive
Inguinal hernia
Single transverse palmar crease
Hyperactivity
Joint hypermobility
Talipes
Joint laxity
Severe global developmental delay
Nystagmus
Atrial septal defect
Muscle weakness
Spasticity
Visual impairment
Tall stature
Ventricular septal defect
Respiratory distress
Short neck
Cerebral cortical atrophy
Patent ductus arteriosus
Intellectual disability, moderate
Osteoporosis
Downslanted palpebral fissures
Low posterior hairline
Wide nasal bridge
Hypospadias
Micrognathia
Strabismus
Growth delay
High palate
Cerebral atrophy
Mitral valve prolapse
Flexion contracture
Hyperreflexia
Cleft palate
Webbed neck
Rare Symptoms - Less than 30% cases
Agenesis of corpus callosum
Encephalopathy
Abnormal heart morphology
Constipation
Hernia
Syndactyly
Prominent forehead
Respiratory failure
Behavioral abnormality
Edema
Sacral dimple
Glaucoma
Hypoplasia of the maxilla
Cleft lip
Anxiety
Wide mouth
Craniosynostosis
Attention deficit hyperactivity disorder
Cleft upper lip
Hypoplasia of the corpus callosum
Thick eyebrow
Macrocephaly
Feeding difficulties
Highly arched eyebrow
Keloids
Dolichocephaly
Intellectual disability, severe
Dementia
Long eyelashes
Low anterior hairline
Abnormality of the kidney
Short attention span
Shawl scrotum
Spina bifida occulta
Self-mutilation
Joint contracture of the hand
Insulin resistance
Frontal bossing
Facial hypotonia
Postnatal growth retardation
Aganglionic megacolon
Wide anterior fontanel
Long fingers
Long philtrum
Kyphosis
Sensorineural hearing impairment
High myopia
Spastic tetraparesis
Wide intermamillary distance
Broad thumb
Impulsivity
Synophrys
Visual loss
Arrhythmia
Hyperextensibility of the finger joints
Narrow palate
Abnormality of movement
Dysphagia
Arachnodactyly
Delayed skeletal maturation
Broad hallux
Spontaneous abortion
Abnormality of the pinna
Osteopenia
Slender finger
Kyphoscoliosis
Dysarthria
Iris coloboma
Anteverted nares
Frontal upsweep of hair
Brachycephaly
Narrow mouth
Mandibular prognathia
Hyperextensible skin
Coloboma
Febrile seizures
Hyperlordosis
Prominent nose
Lumbar hyperlordosis
Retinal detachment
Disproportionate tall stature
Thin vermilion border
Joint hyperflexibility
Prominent fingertip pads
Feeding difficulties in infancy
Camptodactyly
Thick lower lip vermilion
Recurrent fractures
Abnormality of the dentition
Nasolacrimal duct obstruction
Abnormal cornea morphology
Broad distal phalanx of finger
Medulloblastoma
Rhabdomyosarcoma
Dental malocclusion
Phonophobia
Tethered cord
Facial grimacing
Abnormality of the cervical spine
Hypertension
Parietal foramina
Neoplasm
Facial wrinkling
Auricular pit
Postnatal macrocephaly
Microtia, first degree
Short upper lip
Bimanual synkinesia
Duane anomaly
Pheochromocytoma
Clinodactyly of the 5th finger
Avascular necrosis of the capital femoral epiphysis
Deeply set eye
Proptosis
Recurrent upper respiratory tract infections
Bicuspid aortic valve
Retrognathia
Thin upper lip vermilion
EEG abnormality
Cafe-au-lait spot
Respiratory tract infection
Laryngomalacia
Exotropia
Stereotypy
Leukemia
Pulmonic stenosis
Hirsutism
Hypoplasia of dental enamel
Mitral regurgitation
Coarctation of aorta
Autism
Delayed cranial suture closure
Abnormality of refraction
Obstructive sleep apnea
Immunodeficiency
Flared iliac wings
Dyslexia
Meningioma
Hypoplastic iliac wing
Low hanging columella
Capillary hemangioma
Convex nasal ridge
Truncal obesity
Patellar dislocation
Polydactyly
Poor coordination
Overweight
Neuroblastoma
Dislocated radial head
Neurofibromas
Congenital glaucoma
Otitis media
Cholelithiasis
Chorioretinal dystrophy
Neurodegeneration
Spastic tetraplegia
Progressive visual loss
Memory impairment
Aciduria
Urinary incontinence
Progressive cerebellar ataxia
Tetraplegia
Coma
Neutropenia
Metabolic acidosis
Confusion
Limb ataxia
Paraplegia
Abnormality of the cerebral white matter
Spastic paraplegia
Dilated cardiomyopathy
Hypoglycemia
Acidosis
Gait ataxia
Recurrent infections
Dystonia
Cardiomyopathy
Hepatomegaly
Choreoathetosis
Paraparesis
Ring fibers
Everted lower lip vermilion
Poor eye contact
CNS hypomyelination
Tetraparesis
Hypsarrhythmia
Epileptic encephalopathy
Inability to walk
Hypermetropia
Cerebellar atrophy
Hernia of the abdominal wall
Abnormality of chromosome segregation
Tented upper lip vermilion
Neurological speech impairment
Spastic paraparesis
Blepharophimosis
Joint stiffness
Progressive forgetfulness
Hyperchloremic acidosis
Testicular dysgenesis
Nonprogressive cerebellar ataxia
3-Methylglutaconic aciduria
Abnormality of the basal ganglia
Skeletal myopathy
Athetosis
Leukoencephalopathy
Ataxia
Percussion myotonia
Dyscalculia
Abnormal number of teeth
Muscular dystrophy
Stroke
Mental deterioration
Myalgia
Hypogonadism
Skeletal muscle atrophy
Peripheral neuropathy
Pain
Plantar crease between first and second toes
Radial deviation of thumb terminal phalanx
High axial triradius
Tachycardia
Papillary cystadenoma of the epididymis
Enlarged tonsils
Talon cusp
Deviated nasal septum
Premature thelarche
Narrow maxilla
Large foramen magnum
Agoraphobia
Bifid uterus
Vascular ring
Duplication of phalanx of hallux
Lower limb muscle weakness
Sensory neuropathy
Obsessive-compulsive trait
Centrally nucleated skeletal muscle fibers
Narcolepsy
Excessive daytime sleepiness
Frontal balding
First degree atrioventricular block
Testicular atrophy
Atrial flutter
Nonimmune hydrops fetalis
Facial diplegia
Heart block
Abnormal EKG
Neurofibrillary tangles
Thin ribs
Brain atrophy
Alzheimer disease
Myotonia
Sagittal craniosynostosis
Atrioventricular block
Ventricular tachycardia
Intellectual disability, progressive
Cardiac arrest
Hydrops fetalis
Progressive muscle weakness
Atrial fibrillation
Premature birth
Abnormality of the nasopharynx
Abnormal hair pattern
Gastrointestinal dysmotility
Retinopathy
Overgrowth
Esotropia
Gastrointestinal hemorrhage
Sepsis
Abnormal bleeding
Generalized muscle weakness
Microcornea
Polyneuropathy
Bruising susceptibility
Abnormality of metabolism/homeostasis
Blue sclerae
Congestive heart failure
Blindness
Respiratory insufficiency
Depressed nasal bridge
Left hemiplegia
Dysplastic aortic valve
Aplasia/Hypoplasia of the lens
Abnormality of the intervertebral disk
Long toe
Oligohydramnios
Thin skin
Shield chest
Atrophic scars
Subcutaneous hemorrhage
Bladder diverticulum
Generalized joint laxity
Aortic dissection
Atypical scarring of skin
Soft skin
Aortic root aneurysm
Keratoconus
Abnormality of the hip bone
Heart murmur
Spina bifida
Aortic aneurysm
Intracranial hemorrhage
Corneal dystrophy
Aortic regurgitation
Torticollis
Joint dislocation
Hyperbilirubinemia
Increased body weight
Recurrent pneumonia
Unilateral cryptorchidism
Thickened helices
Thoracic kyphoscoliosis
Bifid uvula
Slender build
Epileptic spasms
Decreased muscle mass
Sparse eyebrow
Nasal speech
Narrow face
Hyperpigmentation of the skin
Broad-based gait
Intellectual disability, profound
Generalized myoclonic seizures
Long hallux
Postural instability
High, narrow palate
Bulbous nose
Smooth philtrum
Facial asymmetry
Prominent nasal bridge
Short philtrum
Difficulty walking
Myoclonus
Small earlobe
Narrow palm
Disproportionate short-trunk short stature
Increased susceptibility to fractures
Vertebral compression fractures
Abnormality of the antihelix
Abnormal eyebrow morphology
Posterior subcapsular cataract
Thoracic kyphosis
Iris hypopigmentation
Subcapsular cataract
Preauricular pit
Hemiplegia
Accelerated skeletal maturation
Focal motor seizures
Amblyopia
Decreased body weight
Congenital cataract
Platyspondyly
Abnormal cardiac septum morphology
Depressivity
Microphthalmia
Asymmetry of the ears
Long palm
Lens luxation
Dural ectasia
Delayed closure of the anterior fontanelle
Umbilical hernia
Intestinal malrotation
Triangular face
Downturned corners of mouth
Anal atresia
Broad forehead
Sparse hair
Telecanthus
Aggressive behavior
Rigidity
Macrotia
Split hand
Cerebellar hypoplasia
Clinodactyly
Abnormality of cardiovascular system morphology
Hydrocephalus
Abnormality of the skeletal system
Microdontia of primary teeth
Bifid ribs
Exodeviation
Poliosis
Fine hair
Choanal atresia
Rib fusion
Bowing of the legs
Megalencephaly
Skin tags
Thoracic scoliosis
Anal stenosis
Anteriorly placed anus
Partial agenesis of the corpus callosum
Abnormality of the sternum
High pitched voice
Multiple joint contractures
Radial deviation of finger
Open mouth
Chorioretinal coloboma
Congenital contracture
Pyloric stenosis
Relative macrocephaly
Optic nerve hypoplasia
Plagiocephaly
Gynecomastia
Pachygyria
Heterotopia
Bull's eye maculopathy
Broad philtrum
Arterial dissection
Ventriculomegaly
Oral cleft
Narrow chest
Low-set, posteriorly rotated ears
Hydronephrosis
Hypothyroidism
Upslanted palpebral fissure
Hyporeflexia
Midface retrusion
Short nose
Tremor
Wide nose
Progressive congenital scoliosis
Spontaneous rupture of the globe
Molluscoid pseudotumors
Arterial rupture
Decreased pulmonary function
Moderate myopia
Wrist drop
Premature rupture of membranes
Palmoplantar cutis laxa
Flat face
Vesicoureteral reflux
Conical tooth
Coarse hair
Rectovaginal fistula
Beaking of vertebral bodies
Sprengel anomaly
Vertebral fusion
Vertebral segmentation defect
Neurodevelopmental delay
Supernumerary nipple
Overlapping toe
Large for gestational age
Sparse eyelashes
Growth hormone deficiency
Hemivertebrae
Sparse and thin eyebrow
Gingival overgrowth
Intention tremor
Cerebellar vermis hypoplasia
Abnormality of the ribs
Narrow forehead
Postaxial hand polydactyly
Renal agenesis
Delayed ability to walk
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Wide nasal bridge and Nail dystrophy, related diseases and genetic alterations
Tremor and Glaucoma, related diseases and genetic alterations
Pain and Short metacarpal, related diseases and genetic alterations
Flexion contracture and Focal seizures, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more