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:

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

High match SPONDYLO-OCULAR SYNDROME


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

High match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


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

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Other less relevant matches:

High match CEREBROFACIOTHORACIC DYSPLASIA


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

High match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


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

High match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


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

Low match MYOTONIC DYSTROPHY 1; DM1


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

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


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

Low match TRISOMY XQ28


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

Low match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


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
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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 Confusion, related diseases and genetic alterations Tremor and Arrhythmia, related diseases and genetic alterations Pain and Limb undergrowth, related diseases and genetic alterations Flexion contracture and Short distal phalanx of finger, related diseases and genetic alterations

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