Cryptorchidism, and Neonatal hypotonia
Diseases related with Cryptorchidism and Neonatal hypotonia
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Neonatal hypotonia that can help you solving undiagnosed cases.
Top matches:
High match SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Strabismus
- Cryptorchidism
- Delayed speech and language development
SOURCES: OMIM ORPHANET MENDELIAN
More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROMEHigh match XQ27.3Q28 DUPLICATION SYNDROME
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
SOURCES: OMIM ORPHANET MENDELIAN
More info about XQ27.3Q28 DUPLICATION SYNDROMEHigh match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
Related symptoms:
- Seizures
- Global developmental delay
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
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Other less relevant matches:
High match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME
CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type
Related symptoms:
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Cryptorchidism
- Flexion contracture
SOURCES: ORPHANET OMIM MENDELIAN
More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROMEHigh match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROMEHigh match ALAZAMI-YUAN SYNDROME; ALYUS
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about ALAZAMI-YUAN SYNDROME; ALYUS
High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2
MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2
High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA 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 SYNDROMEHigh 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 SYNDROMEHigh 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 SYNDROMETop 5 symptoms//phenotypes associated to Cryptorchidism and Neonatal hypotonia
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Strabismus | Common - Between 50% and 80% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Cryptorchidism and Neonatal hypotonia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hyperactivity Delayed speech and language development Short stature Motor delay Scoliosis Cerebral cortical atrophy Seizures Micropenis Intrauterine growth retardation Cleft palate Abnormal facial shape Intellectual disability, severe Respiratory insufficiency Myopathy Synophrys Poor speech High palate Flexion contracture Feeding difficulties
Rare Symptoms - Less than 30% cases
Cerebellar hypoplasia Agenesis of corpus callosum Cerebellar vermis hypoplasia Hypotelorism Hypoplasia of the corpus callosum Prominent nose Respiratory failure Hypospadias Thin upper lip vermilion Depressed nasal bridge Prominent supraorbital ridges Epicanthus Low anterior hairline Muscular dystrophy Muscular hypotonia Hirsutism Long face Open mouth Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Nystagmus Growth delay Dilatation Spasticity Cognitive impairment Severe global developmental delay Hypogonadism Deeply set eye Congenital muscular dystrophy Thin vermilion border Protruding ear Poor head control Muscle weakness Ventriculomegaly Inguinal hernia Tapered finger Tetraplegia Spastic tetraplegia Coarse facial features Ventricular hypertrophy Optic atrophy Hyperlordosis Broad hallux Short columella Unilateral cryptorchidism Curly eyelashes Myopia Areflexia Hyporeflexia Abnormal heart morphology Elevated serum creatine phosphokinase Proximal muscle weakness Facial palsy Retinopathy Visual impairment Hip dislocation Abnormality of the cerebral white matter Generalized muscle weakness Macroglossia Pigmentary retinopathy Renal dysplasia Left ventricular hypertrophy Skeletal muscle hypertrophy Calf muscle hypertrophy Abnormality of the periventricular white matter Left ventricular systolic dysfunction Abnormality of the genital system Hypermetropia Generalized hirsutism Non-midline cleft lip Oral cleft Wide nose Ectodermal dysplasia Intellectual disability, profound Split hand Encephalocele Holoprosencephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Hypoplasia of the brainstem Diabetes insipidus Abnormality of digit Craniosynostosis Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Cleft upper lip Low-set, posteriorly rotated ears Intellectual disability, progressive Abnormality of the dentition Lissencephaly Renal hypoplasia/aplasia Overlapping toe Abnormality of the hip bone Infantile spasms Abnormally large globe Abnormal hair pattern Limb joint contracture Broad alveolar ridges Hyperconvex nail Atrial septal defect Patent ductus arteriosus Cleft lip Autistic behavior Dental crowding Coarctation of aorta Hypertelorism Ptosis Low-set ears Wide nasal bridge Downslanted palpebral fissures Syndactyly Microphthalmia Posteriorly rotated ears Telecanthus Long eyelashes Triangular face Wide intermamillary distance Renal tubular acidosis Primary testicular failure Hearing impairment Sensorineural hearing impairment Upslanted palpebral fissure Polydactyly Acidosis Aggressive behavior Postaxial polydactyly Metabolic acidosis Proximal renal tubular acidosis Decreased serum testosterone level Pectus excavatum Recurrent respiratory infections Hyperkeratosis Gastroesophageal reflux Joint laxity Limb muscle weakness Delayed puberty Dry skin EMG: myopathic abnormalities Abdominal obesity Increased circulating gonadotropin level Multiple joint contractures Delayed skeletal maturation Ventricular septal defect Muscular hypotonia of the trunk Abnormal cardiac septum morphology Decreased fetal movement Myopathic facies Dilation of lateral ventricles Failure to thrive Intellectual disability, mild Obesity Small for gestational age Sparse body hair Bulbous nose Small hand Short foot Decreased testicular size Specific learning disability Gynecomastia Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Truncal obesity Congenital contracture Mildly elevated creatine phosphokinase Underdeveloped nasal alae Abnormality of the philtrum Focal-onset seizure Intention tremor Scrotal hypoplasia Focal impaired awareness seizure External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Microphallus Retrocerebellar cyst Dysmetria Infra-orbital crease Disorganization of the anterior cerebellar vermis Long philtrum Narrow mouth Prominent nasal bridge Narrow chest Thick eyebrow Highly arched eyebrow Single transverse palmar crease Abnormal cerebellum morphology Neurological speech impairment Spinal rigidity Abnormal elasticity of skin Weak cry Centrally nucleated skeletal muscle fibers Neck muscle weakness Overweight Follicular hyperkeratosis Generalized joint laxity Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Ataxia Short philtrum Macrocephaly Tremor Frontal bossing Prominent forehead Gait ataxia Autism Mandibular prognathia Macrotia Intellectual disability, moderate Attention deficit hyperactivity disorder Lobar holoprosencephaly
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