Generalized hypotonia, and Inguinal hernia

Diseases related with Generalized hypotonia and Inguinal hernia

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

Top matches:

N-ACETYLASPARTATE DEFICIENCY; NACED Is also known as naa deficiency|hypoacetylaspartia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about N-ACETYLASPARTATE DEFICIENCY; NACED

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Other less relevant matches:

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Inguinal hernia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Scoliosis Motor delay Low-set ears Pointed chin Oculomotor apraxia Hypertelorism Postaxial polydactyly Intellectual disability, severe Polydactyly Molar tooth sign on MRI High forehead Flexion contracture Ventriculomegaly Macrocephaly Growth delay Muscular hypotonia

Rare Symptoms - Less than 30% cases

Cryptorchidism Renal insufficiency Retinopathy Apnea Micropenis Full cheeks Umbilical hernia Apraxia Postaxial hand polydactyly Deeply set eye Sensorineural hearing impairment Nephronophthisis Long face Delayed speech and language development Short stature Ventricular septal defect Long philtrum Autism Talipes equinovarus Retinal dystrophy Strabismus Aplasia/Hypoplasia of the cerebellum Cerebellar atrophy Respiratory distress Short neck Dandy-Walker malformation Downslanted palpebral fissures Wide nasal bridge Prominent forehead Ptosis Tall stature Attention deficit hyperactivity disorder Midface retrusion Coarctation of aorta Ventricular hypertrophy Clinodactyly of the 5th finger Congenital hip dislocation Hypoplasia of the corpus callosum Mitral regurgitation Joint hyperflexibility Abnormality of the face Bronchiectasis Behavioral abnormality Hoarse voice Aortic regurgitation Short nose Hypoplasia of penis Skin rash Pulmonic stenosis Disproportionate tall stature Narrow mouth Hyperactivity Wide nose High palate Large for gestational age Lissencephaly Feeding difficulties Frontal bossing Abnormal facial shape Overgrowth Dilatation Failure to thrive Respiratory failure Dyspnea Fatigue Infantile spasms Cutis laxa Coarse facial features Teratoma Hamartoma of tongue Sacrococcygeal teratoma Spasticity Hyperreflexia Hydrocephalus Cerebellar hypoplasia Dementia Cerebral cortical atrophy Gait ataxia Mandibular prognathia Difficulty walking Heterotopia Aggressive behavior Protruding ear Wide mouth Thick vermilion border Neurodegeneration Prominent nose Cerebral calcification Choreoathetosis Narrow face Self-injurious behavior Basal ganglia calcification High-frequency hearing impairment Hamartoma Short palpebral fissure Venous thrombosis Aortic dissection Systemic lupus erythematosus Redundant skin Aortic aneurysm Stridor Heart murmur Emphysema Pursed lips Abnormal heart valve morphology Prematurely aged appearance Aortic root aneurysm Pulmonary artery stenosis Heart block Raynaud phenomenon Intestinal malrotation Right ventricular hypertrophy Premature skin wrinkling Upper airway obstruction Subglottic stenosis Uterine prolapse Bowel diverticulosis Aortic rupture Repeated pneumothoraces Cognitive impairment Depressed nasal bridge Retrognathia Inability to walk Enlarged naris Aplasia/Hypoplasia of the corpus callosum Breathing dysregulation Renal cyst Aspiration Scaling skin Abnormality of visual evoked potentials Drusen Nystagmus Abnormality of the eye Abnormality of eye movement Genu valgum Stage 5 chronic kidney disease Renal hypoplasia High myopia Encephalocele Horizontal nystagmus Mutism Hypoplasia of the brainstem Abnormal retinal morphology Occipital encephalocele Severe postnatal growth retardation Central apnea Abnormal corpus callosum morphology Intellectual disability, profound Spastic tetraplegia Episodic tachypnea Myopia Unsteady gait Generalized-onset seizure Broad-based gait Decreased body weight Stereotypy Truncal ataxia Self-mutilation Short attention span Cataract Hypertonia Delayed myelination Hyperkeratosis Photophobia Pallor Erythema Dry skin Ichthyosis Tetraplegia Generalized myoclonic seizures Asthma Brain atrophy Meningoencephalocele Brainstem dysplasia Short columella Respiratory insufficiency Hypospadias Sloping forehead Ambiguous genitalia Congenital diaphragmatic hernia Wide anterior fontanel Triphalangeal thumb Prominent occiput Abnormality of the clavicle Micrognathia Cerebral atrophy Biparietal narrowing Gastroesophageal reflux Camptodactyly Abnormality of the foot Poor speech Elbow flexion contracture Knee flexion contracture Adducted thumb Congenital contracture Neonatal respiratory distress Hip contracture Everted upper lip vermilion Acne Neonatal breathing dysregulation Low-set, posteriorly rotated ears Absence of renal corticomedullary differentiation Cleft palate Atrial septal defect Abnormality of the dentition Kyphosis Immunodeficiency Posteriorly rotated ears Cleft lip Intellectual disability, moderate Abnormal cardiac septum morphology Laryngomalacia Short philtrum Prominent nasal bridge Smooth philtrum Oral cleft Bulbous nose Everted lower lip vermilion Highly arched eyebrow Convex nasal ridge Narrow forehead Tented upper lip vermilion Abnormality of the basal ganglia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Coarctation of aorta, related diseases and genetic alterations Optic atrophy and Epileptic encephalopathy, related diseases and genetic alterations Epicanthus and Autoimmunity, related diseases and genetic alterations Ptosis and Bronchiectasis, related diseases and genetic alterations Cataract and Poor speech, related diseases and genetic alterations