Generalized hypotonia, and Cryptorchidism

Diseases related with Generalized hypotonia and Cryptorchidism

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

Top matches:

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

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Other less relevant matches:

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 SYNDROME

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

High match STT3B-CDG

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

High match STT3A-CDG

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

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 SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Cryptorchidism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Failure to thrive Micropenis Delayed speech and language development Abnormal glycosylation Scrotal hypoplasia Thrombocytopenia Respiratory distress Optic atrophy Cerebellar atrophy Autistic behavior

Rare Symptoms - Less than 30% cases

Muscular hypotonia Growth delay Atrial septal defect Strabismus Short stature Thin vermilion border Abnormal facial shape Spasticity Macrocephaly Tall stature Long face Hypoplasia of the corpus callosum Pes planus Neonatal hypotonia Muscular hypotonia of the trunk Status epilepticus Intellectual disability, mild Frontal bossing Autism Blindness Edema Hypertonia Hepatomegaly Impaired smooth pursuit Sensorineural hearing impairment Hearing impairment Rod-cone dystrophy Optic nerve hypoplasia Decreased liver function Generalized tonic-clonic seizures with focal onset Focal impaired awareness seizure Cerebral visual impairment Choanal atresia Renal insufficiency Attenuation of retinal blood vessels Elevated hepatic transaminase Decreased testicular size Abdominal obesity Decreased serum testosterone level Increased circulating gonadotropin level Sparse body hair Truncal obesity High pitched voice Premature ovarian insufficiency Hypergonadotropic hypogonadism Gynecomastia Specific learning disability Short foot Retinal degeneration Small hand Bulbous nose Small for gestational age Deeply set eye Hypogonadism Delayed skeletal maturation Obesity Cystoid macular edema Macular edema Chorea Pigmentary retinopathy Hypsarrhythmia Intellectual disability, severe Dyskinesia Epicanthus Facial asymmetry Abnormality of the foot Microtia Proptosis Posteriorly rotated ears Absent speech Immunodeficiency Ventriculomegaly Motor delay Ventricular septal defect Coarctation of aorta Cupped ear Pointed chin Triangular face Protruding ear Macrotia Prominent forehead Pectus excavatum Kyphosis Febrile seizures Myopathy Polymicrogyria Cleft palate Developmental regression Intellectual disability, moderate EEG abnormality Encephalopathy Cerebral atrophy Dystonia Behavioral abnormality Visual impairment Abnormality of the genital system Abnormality of the dentition Abnormal cardiac septum morphology Patent ductus arteriosus Hypermetropia Dilation of lateral ventricles Myopathic facies Increased variability in muscle fiber diameter Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Open mouth Decreased fetal movement Primary testicular failure


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Agenesis of corpus callosum, related diseases and genetic alterations Lymphoma and Recurrent fractures, related diseases and genetic alterations Edema and Pancytopenia, related diseases and genetic alterations Cardiomyopathy and Muscle cramps, related diseases and genetic alterations Failure to thrive and Joint stiffness, related diseases and genetic alterations Abnormal facial shape and Cirrhosis, related diseases and genetic alterations