Muscle weakness, and Aganglionic megacolon

Diseases related with Muscle weakness and Aganglionic megacolon

In the following list you will find some of the most common rare diseases related to Muscle weakness and Aganglionic megacolon that can help you solving undiagnosed cases.

Top matches:

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

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

Other less relevant matches:

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Aganglionic megacolon

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Aganglionic megacolon. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Ataxia Generalized hypotonia Spasticity Absent speech Microcephaly Leukodystrophy Wide nasal bridge Nystagmus Intellectual disability, severe Constipation Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Narrow mouth Tented upper lip vermilion Atrial septal defect Central hypoventilation Chronic constipation Abnormality of the kidney Short nose Renal agenesis Vesicoureteral reflux Autism Poor speech Cryptorchidism Macrocephaly Gastroesophageal reflux Delayed speech and language development Failure to thrive Autistic behavior Elevated alkaline phosphatase Hepatomegaly Heterochromia iridis Hypopigmentation of the skin Spastic paraparesis Hypopigmented skin patches Prominent nasal bridge Telecanthus Neonatal hypotonia Intestinal obstruction Premature graying of hair Blue irides Motor delay Ptosis White forelock White eyelashes Choanal stenosis White eyebrow Microcolon Scoliosis Facial palsy Hepatosplenomegaly Strabismus Splenomegaly Hypertelorism Abnormal autonomic nervous system physiology Decreased nerve conduction velocity Abnormality of the nervous system Optic atrophy Chorea Tetraplegia Peripheral neuropathy Hyporeflexia Myopathy Polyneuropathy Rigidity Neurodegeneration Spastic tetraplegia Severe global developmental delay Peripheral demyelination Developmental regression Bilateral sensorineural hearing impairment Hydrocephalus Brain atrophy Long-segment aganglionic megacolon Absent brainstem auditory responses Dysmyelinating leukodystrophy Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Piebaldism Kyphosis Hypoganglionosis Spasmus nutans Unilateral ptosis Cataract Epicanthus Ventricular septal defect Congenital sensorineural hearing impairment Abnormality of skin pigmentation Talipes equinovarus Synophrys Syndactyly Hypoplasia of the cochlea Cerebral dysmyelination Meconium ileus Arachnodactyly Oval face Torticollis Hyperuricemia Anosmia CNS hypomyelination Chronic kidney disease Portal hypertension Low anterior hairline Migraine Congenital nystagmus Hypopigmentation of hair Abnormal eyebrow morphology Retinal dystrophy Attention deficit hyperactivity disorder Peripheral hypomyelination Proteinuria White hair Demyelinating peripheral neuropathy Hyperactivity Ileus Intestinal pseudo-obstruction Alacrima Rod-cone dystrophy Obesity Headache Microphthalmia Decreased lacrimation Spotty hyperpigmentation Mild microcephaly Polydactyly Hyperphosphatemia Hemifacial hypoplasia Cleft palate Retinal coloboma Ganglioneuroma Fused cervical vertebrae Central sleep apnea Breathing dysregulation Neuroblastoma Bladder diverticulum Abnormality of the nasopharynx Small thenar eminence Duane anomaly Optic disc hypoplasia Crossed fused renal ectopia Renal malrotation Absent radius Aplasia of metacarpal bones Radial deviation of the hand Unilateral deafness Impaired ocular adduction Impaired ocular abduction Impaired convergence Palpebral fissure narrowing on adduction Pectoralis hypoplasia Slit-like opening of the exterior auditory meatus Upper limb muscle hypoplasia Polyhydramnios Small for gestational age Oligohydramnios Anal stenosis Short humerus Dilatation Renal hypoplasia Abnormal heart morphology Diabetes mellitus Decreased fetal movement Pes planus Hydronephrosis Absence seizures Coloboma Facial asymmetry Anal atresia Iris coloboma Microcornea Intestinal malrotation Dandy-Walker malformation Choanal atresia Absent thumb Short thumb Horseshoe kidney Spina bifida occulta Sandal gap Broad nasal tip Abnormal dermatoglyphics Hypoplasia of the radius Abnormality of the urinary system Cerebral atrophy Preaxial polydactyly Triphalangeal thumb Preaxial hand polydactyly Hypohidrosis Ectopic kidney Hypoplasia of the ulna Retinal atrophy Underdeveloped nasal alae Decerebrate rigidity Toe walking Bulbar palsy Onion bulb formation Abnormality of visual evoked potentials Loss of speech Increased CSF protein Delusions Progressive gait ataxia EMG: neuropathic changes Genu recurvatum Vegetative state Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Abnormal social behavior Personality changes Punctate periventricular T2 hyperintense foci Abnormality of proteoglycan metabolism Gallbladder dysfunction Low-set ears Depressed nasal bridge Downslanted palpebral fissures Dysphagia Abnormality of the dentition Malar flattening Recurrent infections Midface retrusion Abnormality of metabolism/homeostasis Depressivity Patent ductus arteriosus Emotional lability Apathy Recurrent respiratory infections Dementia Abnormal facial shape Cerebellar hypoplasia Agenesis of corpus callosum Adducted thumb Partial agenesis of the corpus callosum Inferior vermis hypoplasia Pain Cognitive impairment Hyperreflexia Dysarthria Gait disturbance Behavioral abnormality Dystonia Babinski sign Gait ataxia Schizophrenia Reduced visual acuity Mental deterioration Feeding difficulties in infancy Pallor Abnormality of the cerebral white matter Unsteady gait Confusion Abdominal distention Urinary incontinence Optic disc pallor Clumsiness Frequent falls Hallucinations Shock Pneumonia Brachycephaly Coma Secondary hyperparathyroidism Bone marrow hypocellularity Hypocalcemia Coxa vara Ophthalmoparesis Flared metaphysis Osteomyelitis Pathologic fracture Hyperparathyroidism Renal tubular acidosis Osteopetrosis Facial paralysis Tetany Extramedullary hematopoiesis Progressive macrocephaly Sandwich appearance of vertebral bodies Pancytopenia Growth delay Hypertension Myopia Arrhythmia Areflexia Pes cavus Myoclonus Hypogonadism Abdominal pain Distal muscle weakness Abnormal pyramidal sign Arthrogryposis multiplex congenita Distal amyotrophy Distal sensory impairment Increased bone mineral density Decreased antibody level in blood Hypothyroidism Myotonia Macrotia Anxiety Muscular hypotonia of the trunk Respiratory tract infection Intellectual disability, profound Lower limb spasticity Stereotypy Aspiration Severe muscular hypotonia Drooling Infantile muscular hypotonia Optic nerve hypoplasia Poor head control Premature ovarian insufficiency Progressive spasticity Carious teeth Poor eye contact Hypoventilation Central hypotonia Facial hypotonia Bruxism Infantile axial hypotonia Hostility Short stature Anemia Feeding difficulties Frontal bossing Blindness Visual loss Acidosis Moderate receptive language delay


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