Generalized hypotonia, and Toe syndactyly

Diseases related with Generalized hypotonia and Toe syndactyly

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by Alaimo et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: ORPHANET MENDELIAN

More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Toe syndactyly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

2-3 toe syndactyly Hearing impairment Visual impairment Microcephaly Absent speech Epicanthus Low-set ears Muscular hypotonia of the trunk Strabismus Anteverted nares Coloboma Scoliosis Smooth philtrum Cupped ear Spasticity High palate Clinodactyly Feeding difficulties Cerebral visual impairment Short nose

Rare Symptoms - Less than 30% cases

Heterotopia Hypoplasia of the corpus callosum Hypertelorism Protruding ear Deeply set eye Broad-based gait Muscular hypotonia Upslanted palpebral fissure Generalized tonic-clonic seizures Synophrys Short foot Stereotypy Iris coloboma Abnormality of the skeletal system Developmental regression Abnormality of the periventricular white matter Multiple lipomas Growth delay Joint hypermobility Microtia Myopia Optic atrophy Wide nasal bridge Delayed speech and language development Epileptic encephalopathy Attention deficit hyperactivity disorder Cognitive impairment Motor delay Ptosis Ataxia Hyperactivity Nystagmus Cleft palate Chorea Brachydactyly Joint laxity Depressed nasal bridge Short stature Hypoplastic nipples Encephalopathy Absence seizures Short chin Optic nerve hypoplasia Open mouth Convex nasal ridge Plagiocephaly Intellectual disability, severe Tented upper lip vermilion Infantile spasms Febrile seizures Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Abnormality of nervous system morphology Happy demeanor Hemiclonic seizures Poor eye contact Thick eyebrow Generalized myoclonic seizures Abnormality of the mitochondrion Myoclonus Ventriculomegaly Autism High forehead Downslanted palpebral fissures Expressive language delay Spinal deformities Macrotia EEG abnormality Long hallux Prolonged prothrombin time Periorbital fullness Everted lower lip vermilion Prolonged partial thromboplastin time Upper airway obstruction Autistic behavior Short philtrum Dysostosis multiplex Broad forehead Episodic abdominal pain Protuberant abdomen Dilatation Inability to walk Downturned corners of mouth Frontal cortical atrophy Renal agenesis Periventricular white matter hyperdensities Aplasia/Hypoplasia of the nipples Cutaneous syndactyly Abnormality of the urinary system Abnormality of the thorax Agenesis of permanent teeth Narrow nasal bridge Aplasia cutis congenita Palpebral edema Short columella Abnormality of the antihelix Eyelid coloboma Abnormality of the endocrine system Absent nipple Narrow palpebral fissure Ureteral duplication Pyelonephritis Aplasia cutis congenita of scalp Small earlobe Breast aplasia Bilateral renal hypoplasia Hypoplastic helices Bilateral camptodactyly Underdeveloped tragus 3-4 finger cutaneous syndactyly Underdeveloped antitragus Abnormality of the scalp Abnormality of the fingernails Type I diabetes mellitus Cataract Nail dystrophy Hypertension Abnormality of the dentition Renal insufficiency Hyperhidrosis Mandibular prognathia Telecanthus Camptodactyly Abnormality of the kidney Abnormality of the pinna Sparse hair Blepharophimosis Finger syndactyly Congenital cataract Abnormality of the nail Dry skin Delayed eruption of teeth Vesicoureteral reflux Nail dysplasia Abnormality of the skin Cholelithiasis Hypotelorism Renal hypoplasia Fine hair Recurrent urinary tract infections Hypohidrosis Abnormality of the hair Thoracic hypoplasia Macrodactyly Hyperkinesis Respiratory failure Postnatal microcephaly Widely spaced teeth Drooling Coarse hair Bilateral ptosis Myopathic facies Curly hair Bruxism Hyperreflexia Respiratory insufficiency Abnormality of the cerebral white matter Wide intermamillary distance Leukodystrophy Abnormality of mitochondrial metabolism Recurrent lower respiratory tract infections Short 4th metacarpal Vegetative state Sensorineural hearing impairment Intrauterine growth retardation Ventricular septal defect Short neck Congestive heart failure Postnatal growth retardation Oligohydramnios Cortical dysplasia Abnormality of skin pigmentation Dilated fourth ventricle Dysarthria Gait ataxia Dysmetria Small hand Tapered finger Progressive cerebellar ataxia Generalized-onset seizure Narrow forehead Diplopia Incoordination Cerebellar vermis atrophy Pectus excavatum Abnormality of neuronal migration Kyphoscoliosis Pectus carinatum Abnormality of movement Blue sclerae Rotary nystagmus Ankyloglossia Micrognathia Cryptorchidism Flexion contracture Polymicrogyria Bifid uvula Wide mouth Single transverse palmar crease Sleep apnea Inguinal hernia Ovarian serous cystadenoma Abnormal venous morphology Hemimacroglossia Pain Hepatomegaly Macrocephaly Frontal bossing Intellectual disability, mild Splenomegaly Long philtrum Abnormality of metabolism/homeostasis Prominent forehead 2-4 toe syndactyly Abdominal pain Coarse facial features Hepatosplenomegaly Thin upper lip vermilion Elevated hepatic transaminase High, narrow palate Macroglossia Memory impairment Low posterior hairline Hoarse voice Generalized hirsutism Hyperparakeratosis Epidermal nevus Tetralogy of Fallot Overgrowth Sloping forehead Bilateral sensorineural hearing impairment Cutis marmorata Chromosome breakage Optic nerve coloboma Small face Premature chromatid separation Hypoplasia of the cochlea Neoplasm Polydactyly Nevus Nephroblastoma Hemimegalencephaly Lipoatrophy Telangiectasia of the skin Foot polydactyly Enlarged kidney Megalencephaly Hydrocele testis Abnormality of the cerebral vasculature Seborrheic dermatitis Advanced eruption of teeth Abnormality of the lymphatic system Capillary malformation Duplication of renal pelvis


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