Muscular hypotonia, and Overgrowth

Diseases related with Muscular hypotonia and Overgrowth

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

Top matches:

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Other less relevant matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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

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

Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Overgrowth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypertelorism Ventriculomegaly Absent speech Strabismus Mandibular prognathia Scoliosis High forehead Hydrocephalus Low-set ears Prominent forehead Delayed speech and language development Long face Frontal bossing Hernia Tall stature High palate Behavioral abnormality

Rare Symptoms - Less than 30% cases

Megalencephaly Narrow mouth Autism Hyperactivity Inguinal hernia Failure to thrive Anxiety Microcephaly Long fingers Advanced eruption of teeth Long foot Myopia Joint hypermobility Joint laxity Congenital hip dislocation Short stature Disproportionate tall stature Atrial septal defect Large hands Arachnodactyly Narrow palpebral fissure Attention deficit hyperactivity disorder Cerebellar atrophy Malar flattening Dilatation Pointed chin Proptosis Pectus excavatum Kyphoscoliosis Accelerated skeletal maturation Nevus Difficulty walking Gait ataxia Astigmatism Motor delay Hyperparakeratosis Talipes equinovarus Enlarged kidney Hydrocele testis Abnormality of the cerebral vasculature Seborrheic dermatitis Abnormality of the lymphatic system Capillary malformation Hemimegalencephaly Abnormal venous morphology Ovarian serous cystadenoma Epidermal nevus Macrodactyly Telangiectasia of the skin Hemimacroglossia 2-4 toe syndactyly Foot polydactyly Nephroblastoma Lipoatrophy Abnormality of the dentition Camptodactyly Clinodactyly of the 5th finger Telecanthus Micropenis Neonatal hypotonia Wide nose Hypoplasia of penis Lissencephaly Multiple lipomas Large for gestational age Neoplasm Abnormality of the skeletal system Syndactyly Polydactyly Microtia Hypertonia Aggressive behavior Obesity Autistic behavior Short nose Abnormality of the vasculature Congenital diaphragmatic hernia Bradycardia Spina bifida Joint dislocation Cutis laxa Aortic aneurysm Emphysema Aortic root aneurysm Soft skin Arterial stenosis Convex nasal ridge Pulmonary insufficiency Narrow naris Biventricular hypertrophy Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Oligohydramnios Recurrent fractures Generalized tonic-clonic seizures High anterior hairline Hirsutism Recurrent otitis media Arnold-Chiari malformation Polycystic ovaries Slurred speech Polyphagia Long nose Syringomyelia Arnold-Chiari type I malformation Menstrual irregularities Bulbous nose Shyness Advanced ossification of carpal bones Progressive macrocephaly Micrognathia Flexion contracture Depressed nasal bridge Long philtrum Abnormality of the pinna Scarring Midface retrusion Hypoplasia of the corpus callosum Gingival overgrowth Chronic diarrhea Cerebral visual impairment Torticollis Tented upper lip vermilion Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Dental crowding Narrow forehead Ventricular septal defect Anteverted nares Hypsarrhythmia Epileptic encephalopathy Polyhydramnios Coarse facial features Umbilical hernia Blepharophimosis Open mouth Poor speech Thick eyebrow Cutis marmorata Nystagmus Obtundation status Abnormal palmar dermatoglyphics Hypermetropia Small earlobe Everted lower lip vermilion Narrow face Coxa valga Epileptic spasms Hip dislocation Global brain atrophy Flat occiput Self-injurious behavior Focal impaired awareness seizure Sandal gap Diarrhea Hypoglycemia Deeply set eye Abnormal cardiac septum morphology Round face Short neck Communicating hydrocephalus Curved fingers Abnormal cerebellum morphology Triangular face High myopia Lumbar hyperlordosis Sparse eyebrow Amblyopia Full cheeks Slender build Hyperlordosis Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Growth delay Talipes Wide nasal bridge Prominent nasal bridge Visual impairment Premature birth Ataxia Inability to walk Developmental regression Deep philtrum Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Cognitive impairment Pes planus Kyphosis Clinodactyly Cerebellar hypoplasia Posteriorly rotated ears Encephalopathy Upslanted palpebral fissure Cerebral cortical atrophy Cerebral atrophy Macrotia Pulmonary artery dilatation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Edema and Pancytopenia, related diseases and genetic alterations Edema and Coloboma, related diseases and genetic alterations Ptosis and Ectodermal dysplasia, related diseases and genetic alterations Spasticity and Growth hormone deficiency, related diseases and genetic alterations Peripheral neuropathy and Diarrhea, related diseases and genetic alterations