Muscular hypotonia, and Inguinal hernia

Diseases related with Muscular hypotonia and Inguinal hernia

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


Top matches:

Medium match N-ACETYLASPARTATE DEFICIENCY; NACED


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

Medium match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


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

Medium match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

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Other less relevant matches:

Medium match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Medium match MUCOPOLYSACCHARIDOSIS TYPE 7


Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

Medium match 15Q14 MICRODELETION SYNDROME


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

Medium match ACROCALLOSAL 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

Medium match CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD


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

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Medium match 17P13.3 MICRODUPLICATION SYNDROME


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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hernia Short neck Downslanted palpebral fissures Hypertelorism Seizures Wide nasal bridge Motor delay High palate Ataxia Short stature Talipes equinovarus Long philtrum Growth delay

Rare Symptoms - Less than 30% cases


Postaxial polydactyly Midface retrusion Apraxia Postaxial hand polydactyly Intellectual disability, severe Umbilical hernia Low-set, posteriorly rotated ears Tall stature Narrow mouth Frontal bossing Adducted thumb Abnormal facial shape Cerebellar atrophy Retinal dystrophy Macrocephaly Polydactyly Nephronophthisis Molar tooth sign on MRI Camptodactyly Cerebral atrophy Oculomotor apraxia High forehead Delayed speech and language development Pointed chin Autism Micropenis Flexion contracture Low-set ears Respiratory insufficiency Respiratory distress Narrow forehead Convex nasal ridge Poor speech Gastroesophageal reflux Micrognathia Highly arched eyebrow Everted lower lip vermilion Abnormality of the foot Bulbous nose Long face Prominent nasal bridge Abnormality of the clavicle Tented upper lip vermilion Sensorineural hearing impairment Dandy-Walker malformation Retinopathy Ambiguous genitalia Oral cleft Congenital diaphragmatic hernia Hypospadias Cryptorchidism Everted upper lip vermilion Sloping forehead Biparietal narrowing Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Acne Prominent occiput Laryngomalacia Smooth philtrum Pursed lips Full cheeks Behavioral abnormality Delayed gross motor development Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Failure to thrive Ventriculomegaly Hypoplasia of the corpus callosum Short nose Dental crowding Clinodactyly of the 5th finger Prominent forehead Hyperactivity Attention deficit hyperactivity disorder Wide nose Overgrowth Hypoplasia of penis Congenital hip dislocation Lissencephaly Large for gestational age Joint dislocation Mitral regurgitation Elbow flexion contracture Myopathy Knee flexion contracture Congenital contracture Neonatal respiratory distress Hip contracture Short columella Breathing dysregulation Abnormal cardiac septum morphology Enlarged naris Muscle weakness Pain Brachycephaly Blue sclerae Arthralgia Myalgia Telecanthus Protruding ear Scarring Talipes Arachnodactyly Joint hypermobility Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Short philtrum Mucopolysacchariduria Intellectual disability, moderate Joint hyperflexibility Aspiration Scaling skin Abnormality of visual evoked potentials Drusen Epicanthus Intrauterine growth retardation Abnormality of cardiovascular system morphology Finger syndactyly Severe global developmental delay Small hand High myopia Recurrent fractures Round face Preauricular skin tag Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Nystagmus Strabismus Intellectual disability, profound Spastic tetraplegia Renal insufficiency 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 Ptosis Abnormality of the eye Cleft lip Enlarged thorax Ascites Hepatitis Hydrops fetalis Lymphedema Metatarsus adductus Abnormality of the hip bone Epiphyseal stippling Arteriovenous malformation Abnormality of the pleura Diaphyseal thickening Corneal opacity Anterior beaking of lumbar vertebrae Anterior beaking of lower thoracic vertebrae Cleft palate Ventricular septal defect Atrial septal defect Abnormality of the dentition Kyphosis Immunodeficiency Posteriorly rotated ears Deeply set eye Flat face Joint stiffness Apnea Abnormal retinal morphology Abnormality of eye movement Genu valgum Stage 5 chronic kidney disease Renal cyst Renal hypoplasia Encephalocele Horizontal nystagmus Mutism Hypoplasia of the brainstem Occipital encephalocele Coarse facial features Severe postnatal growth retardation Central apnea Abnormal corpus callosum morphology Meningoencephalocele Episodic tachypnea Brainstem dysplasia Neonatal breathing dysregulation Absence of renal corticomedullary differentiation Splenomegaly Recurrent respiratory infections Disproportionate tall stature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Low-set ears and Malar flattening, related diseases and genetic alterations Flexion contracture and Attention deficit hyperactivity disorder, related diseases and genetic alterations Immunodeficiency and Flat face, related diseases and genetic alterations Peripheral neuropathy and Premature birth, related diseases and genetic alterations Sensorineural hearing impairment and Lymphoma, related diseases and genetic alterations

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