Macrocephaly, and Muscular hypotonia of the trunk

Diseases related with Macrocephaly and Muscular hypotonia of the trunk

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

Top matches:

ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency|acer3-related early childhood-onset progressive leukodystrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALKALINE CERAMIDASE 3 DEFICIENCY

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Other less relevant matches:

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Top 5 symptoms//phenotypes associated to Macrocephaly and Muscular hypotonia of the trunk

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Kyphosis Cerebral atrophy Abnormal facial shape Depressed nasal bridge Low-set ears Short nose Ventriculomegaly Epicanthus Delayed speech and language development Ataxia Absent speech Microcephaly Micrognathia Flexion contracture Poor speech Coarse facial features Gastroesophageal reflux Cryptorchidism Posteriorly rotated ears Dystonia Open mouth Lumbar hyperlordosis Motor delay Frontal bossing Hydrocephalus Intellectual disability, severe Deeply set eye Macrotia Short stature Developmental regression Hypertonia High palate Tremor Short neck Polyhydramnios Abnormal cardiac septum morphology Tented upper lip vermilion Strabismus Patent ductus arteriosus Narrow mouth Hernia

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Pneumonia Malar flattening Hyperreflexia Slender build Genu valgum Cerebellar hypoplasia Abnormality of the dentition Drooling Bruxism Facial hypotonia Cleft palate Spastic tetraplegia Choreoathetosis Progressive spasticity Abnormality of the nervous system Upslanted palpebral fissure Edema Agenesis of corpus callosum Abnormality of the pinna Dilatation Hydronephrosis Short distal phalanx of finger Short foot Flat face Splenomegaly Congenital diaphragmatic hernia Neurodegeneration Respiratory tract infection Hepatomegaly Brachycephaly Depressivity Autism Inguinal hernia Growth delay Anteverted nares Hepatosplenomegaly Hyperlordosis Ascites Macroglossia Patent foramen ovale Widely spaced teeth High, narrow palate Wide mouth Neonatal hypotonia Kyphoscoliosis Recurrent infections Tetraplegia Large for gestational age Intellectual disability, profound Abnormality of the skeletal system Ventricular septal defect Myopia Atrial septal defect Talipes equinovarus Muscular hypotonia Prominent forehead Hearing impairment Spastic paraplegia High forehead Visual impairment Relative macrocephaly Polymicrogyria Paraplegia Ptosis Lower limb spasticity Thick eyebrow Prominent nose Smooth philtrum Broad-based gait Delayed myelination Anal stenosis Limb hypertonia Round face Large fleshy ears Abdominal distention Hydrocele testis Vertical nystagmus Spinal cord compression Hoarse cry Dolichocephaly Cystic hygroma Prominent sternum Acetabular dysplasia Thoracolumbar scoliosis Neoplasm Abnormality of the kidney Thoracolumbar kyphosis Dysostosis multiplex Wide nasal bridge Respiratory distress Retrognathia Nonimmune hydrops fetalis Renal insufficiency Recurrent ear infections Hypospadias Broad ribs Pulmonary insufficiency Amblyopia Prominent occiput Decreased pulmonary function Pseudoarthrosis Dermatan sulfate excretion in urine Anterior beaking of lumbar vertebrae Hyporeflexia Long philtrum Cerebellar atrophy Proximal tapering of metacarpals Snoring Nystagmus Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Cleft lip Heparan sulfate excretion in urine Cupped ear Vesicoureteral reflux Overfolded helix Focal impaired awareness seizure Abnormality of the urinary system Overgrowth Narrow forehead Focal-onset seizure Thoracic kyphoscoliosis Narrow greater sacrosciatic notches Brain atrophy Pulmonary hypoplasia J-shaped sella turcica Thin vermilion border Anal atresia Synophrys Prominent nasal bridge Specific learning disability Hypoplasia of the odontoid process Abnormality of the cardiovascular system Thymus hyperplasia Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Webbed neck Nephroblastomatosis Fetal ascites Vertigo Periventricular leukomalacia Abnormality of upper lip Lumbar scoliosis Long upper lip Hip dysplasia Pancreatic islet-cell hyperplasia Broad alveolar ridges Hirsutism Nephrogenic rest Femoral hernia Arrhythmia Intellectual disability, moderate Hypertrophic cardiomyopathy Umbilical hernia Skeletal dysplasia Dyspnea Mandibular prognathia Severe short stature Cardiomyopathy Facial asymmetry Cognitive impairment Prominent xiphoid process Distal ileal atresia Pectus carinatum Corneal opacity Ileal atresia Platyspondyly Intestinal atresia Interrupted aortic arch Hypoplasia of penis Bilateral single transverse palmar creases Neurodevelopmental delay Global brain atrophy Abnormal heart valve morphology Nephroblastoma Hyperinsulinemia Polycystic kidney dysplasia Growth abnormality Hepatic fibrosis Hamartoma Hyperactive deep tendon reflexes Tall stature Renal dysplasia Postnatal growth retardation Status epilepticus Cardiomegaly Thoracic kyphosis Mild short stature Metatarsus adductus Visceromegaly Polysplenia Hypertrichosis Thickened helices Hypoxemia Volvulus Thick upper lip vermilion Gingival overgrowth Renal neoplasm Capillary hemangioma Spondyloepiphyseal dysplasia Enlarged kidney Hydrops fetalis Cardiac arrest Opacification of the corneal stroma Recurrent upper respiratory tract infections Pterygium Pleural effusion Aplasia cutis congenita of scalp Chorea Corpus callosum atrophy Dilation of lateral ventricles Cataract Thick corpus callosum Vascular ring Capillary malformation Abnormal nasal morphology Cavum septum pellucidum Abnormal localization of kidney Abnormally large globe Encephalopathy Megalencephaly Thoracic scoliosis Long palpebral fissure Infantile spasms Cortical dysplasia Knee flexion contracture Pachygyria Gait disturbance Babinski sign Postaxial hand polydactyly Clumsiness Macroorchidism Poor coordination Restlessness Spastic paraparesis Paraparesis Spastic gait Postnatal microcephaly Psychosis Pes cavus Apraxia Abnormality of extrapyramidal motor function Parkinsonism Small hand Abnormal pyramidal sign EEG abnormality Gait ataxia Mitral regurgitation Postaxial polydactyly Excessive salivation Sensorineural hearing impairment Unsteady gait Abnormality of the foot Generalized tonic-clonic seizures Hip dislocation Difficulty walking Obesity Dysarthria Neurogenic bladder Retinal dystrophy Developmental stagnation Leukodystrophy Thick lower lip vermilion Optic disc pallor Sloping forehead Areflexia Peripheral neuropathy Inability to walk Downturned corners of mouth Telecanthus Exophoria Polydactyly Blindness Skeletal muscle atrophy Focal myoclonic seizures Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Structural foot deformity Generalized myoclonic seizures Puberty and gonadal disorders Cerebral white matter atrophy Overweight Progressive spastic paraplegia Fasciculations Tetraparesis Waddling gait Urinary incontinence Shuffling gait Progressive spastic paraparesis Aplasia cutis congenita Central hypoventilation Microphthalmia Syndactyly Optic atrophy Intrauterine growth retardation Brachydactyly Hostility Infantile axial hypotonia Chronic constipation Alopecia Central hypotonia Hypoventilation Poor eye contact Myotonia Premature ovarian insufficiency Poor head control Optic nerve hypoplasia Abnormal heart morphology Protruding ear Severe muscular hypotonia Wide anterior fontanel Short finger Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Low anterior hairline Lymphedema Blue sclerae Congenital cataract Small nail Oligohydramnios Wide intermamillary distance Gliosis Single transverse palmar crease Retinal detachment Bulbous nose Infantile muscular hypotonia Aspiration Mania Abnormal cerebellum morphology Thickened calvaria Hallux valgus Nasal speech Poor suck Clonus Dental crowding Intention tremor Thick vermilion border Mild global developmental delay Long face Delayed puberty Short philtrum Joint laxity Aggressive behavior Pes planus Juvenile cataract Ankylosis Right ventricular hypertrophy Stereotypy Constipation Aganglionic megacolon Severe global developmental delay Autistic behavior Anxiety Rigidity Hypothyroidism Recurrent respiratory infections Abnormality of metabolism/homeostasis Left ventricular noncompaction Midface retrusion Myopathy Dysphagia Downslanted palpebral fissures Deviated nasal septum Increased head circumference Perseveration Speech apraxia Anterior beaking of lower thoracic vertebrae


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