Muscular hypotonia, and Nephroblastoma

Diseases related with Muscular hypotonia and Nephroblastoma

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

Top matches:

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

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

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Other less relevant matches:

Medium match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match ISOLATED ANIRIDIA

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Abnormal facial shape Epicanthus Wide nasal bridge Depressed nasal bridge Hypertelorism High forehead Overgrowth Short nose Hypothyroidism Cataract Large for gestational age Strabismus Micrognathia Growth delay Ventriculomegaly Cryptorchidism Low-set ears Hyperactivity Anteverted nares Micropenis Intrauterine growth retardation Broad forehead Rhabdomyosarcoma Agenesis of corpus callosum Microcephaly Nystagmus Tall stature Failure to thrive Cleft palate Edema Downslanted palpebral fissures Ptosis Hepatomegaly Arnold-Chiari malformation Ascites Hydrocephalus Nevus Enlarged kidney Hearing impairment Microphthalmia Scoliosis Syndactyly Polydactyly Smooth philtrum

Rare Symptoms - Less than 30% cases

Feeding difficulties Frontal bossing Abdominal distention Hepatosplenomegaly Short neck Oral cleft Retinopathy Abnormality of the nervous system Dolichocephaly Kyphosis Nevus flammeus Hemihypertrophy Long philtrum Asymmetric growth Umbilical hernia Accelerated skeletal maturation Neurodevelopmental delay Hypospadias Hernia Abnormality of cardiovascular system morphology Dental crowding Renal dysplasia Retinal detachment Polymicrogyria Cardiomegaly Visceromegaly Intellectual disability, moderate Muscular hypotonia of the trunk Diabetes mellitus Hypogonadism Hypoplasia of the corpus callosum High palate Abnormality of pancreas morphology Multiple renal cysts Midface retrusion Vesicoureteral reflux Dandy-Walker malformation Redundant skin Facial hemangioma Small for gestational age Postnatal growth retardation Feeding difficulties in infancy Posteriorly rotated ears Congenital diaphragmatic hernia Macroglossia Deeply set eye Capillary hemangioma Polyhydramnios Inguinal hernia Leukemia Short stature Delayed puberty Cutaneous syndactyly Capillary malformation Status epilepticus Hemimegalencephaly Prominent nose Autism Brachycephaly Joint hypermobility Behavioral abnormality Obesity Nephropathy Aniridia Telangiectasia of the skin Megalencephaly Dilation of lateral ventricles Arterial stenosis Atrial flutter Global brain atrophy Hyperinsulinemia Cavum septum pellucidum Bilateral single transverse palmar creases Polycystic kidney dysplasia Hepatic fibrosis Tented upper lip vermilion Lumbar hyperlordosis Open mouth Hamartoma Growth abnormality Posterior helix pit Abnormality of the upper limb Meningioma Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Severe failure to thrive Femoral hernia Interrupted aortic arch Thickened helices Arteriovenous malformation Hypoxemia Varicose veins Large earlobe Volvulus Thick upper lip vermilion Renal neoplasm Polysplenia Abnormality of the lower limb Abnormality of the cardiovascular system Hypoplasia of penis Abnormality of the pinna Specific learning disability Myocardial fibrosis Peripheral edema Progressive macrocephaly Displacement of the external urethral meatus Vascular ring Fibroma Weak voice Prominent superficial veins Microglossia J-shaped sella turcica Cutis marmorata telangiectatica congenita Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Premature ovarian insufficiency Absent frontal sinuses Leukocoria Round face Retrognathia Skin erosion High, narrow palate Flat face Hyperlordosis Abnormality of the kidney Hydronephrosis Right aortic arch Perisylvian polymicrogyria Hypoplastic frontal sinuses Prominent forehead Subcutaneous hemorrhage Cerebral atrophy Renal insufficiency Respiratory distress Pericardial constriction Short lower limbs Constrictive pericarditis Severe postnatal growth retardation Syringomyelia Abnormality of upper lip Diastasis recti Abnormality of earlobe Pseudohypoparathyroidism Toe syndactyly Otosclerosis Ureteral duplication Gonadoblastoma Postaxial polydactyly Thick vermilion border Choroideremia Neonatal hypoglycemia Exocrine pancreatic insufficiency Reduced tendon reflexes Abnormality of the skin Postaxial hand polydactyly Telangiectasia Prominent metopic ridge Polycythemia Finger syndactyly Stroke Purpura Cognitive impairment Infra-orbital crease Adrenocortical carcinoma Large placenta Congenital megaureter Adrenocortical cytomegaly Abnormality of the shape of the midface Large intestinal polyposis Subchorionic septal cyst Ventricular septal defect Joint laxity Urogenital fistula Leiomyosarcoma Patent ductus arteriosus Arrhythmia Elevated alpha-fetoprotein Hepatoblastoma Anterior creases of earlobe Abnormal heart morphology Multicystic kidney dysplasia Neuroblastoma Fetal ascites Ileal atresia Coarse facial features Mandibular prognathia Proptosis Abnormality of digit Aplasia/Hypoplasia of the skin Splenomegaly Prominent xiphoid process Distal ileal atresia Nephrogenic rest Hypertrophic cardiomyopathy Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Multiple cafe-au-lait spots Branchial cyst Nephroblastomatosis Arnold-Chiari type I malformation Thymus hyperplasia Hypoglycemia Wide mouth Prominent occiput Hypercalciuria Shock Cutis laxa Melanocytic nevus Hemangioma Ischemic stroke Reduced bone mineral density Cutis marmorata Cortical dysplasia Relative macrocephaly Neurological speech impairment Sleep apnea Wide anterior fontanel Nephrolithiasis Large fontanelles Omphalocele Premature birth Long face Poor speech Cachexia Limb hypertonia Acanthosis nigricans Congenital ptosis Abnormality of the ribs Delayed eruption of teeth Joint hyperflexibility Narrow mouth Pectus excavatum Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Craniofacial dysostosis Basal cell carcinoma Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses Turricephaly Self-injurious behavior Sparse eyebrow Wormian bones Abnormality of the genital system Trigonocephaly Abnormality of the vertebral column Broad nasal tip Clinodactyly Generalized myoclonic seizures Renal cyst Wide nose Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Upslanted palpebral fissure Cerebellar hypoplasia Immunodeficiency Medulloblastoma Malar flattening Cardiac fibroma Odontogenic keratocysts of the jaw Plantar pits Thickened ears Ovarian fibroma Calcification of falx cerebri Palmar pits Metopic synostosis Underdeveloped nasal alae Single transverse palmar crease Oligohydramnios Nephritis Microtia Abnormality of the skeletal system Hyperprolinemia Prolinuria Hydroxyprolinuria Hyperglycinuria Motor deterioration Bruxism Schizophrenia Lipoatrophy Severe muscular hypotonia Stereotypy Hemiparesis Sleep disturbance Ichthyosis Aggressive behavior Proteinuria EEG abnormality Delayed speech and language development Multiple lipomas Foot polydactyly Downturned corners of mouth Hemimacroglossia Prominent nasal bridge Short philtrum Autistic behavior Telecanthus Myopia Brachydactyly Hypertension Anemia Sensorineural hearing impairment Abnormal venous morphology Hydrocele testis Ovarian serous cystadenoma Hyperparakeratosis 2-4 toe syndactyly Macrodactyly Epidermal nevus Abnormality of the lymphatic system Advanced eruption of teeth Seborrheic dermatitis Abnormality of the cerebral vasculature Amenorrhea Ambiguous genitalia Pointed chin Decreased light- and dark-adapted electroretinogram amplitude Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Peters anomaly Lumbar kyphosis Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Hypopituitarism Adrenal insufficiency Albinism Aphakia Aplasia/Hypoplasia of the macula Ectopia lentis Hypodontia Increased body weight Insulin resistance Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Cyanosis Growth hormone deficiency Decreased antibody level in blood Triangular face Cirrhosis Hypoplasia of the antihelix Astigmatism Infertility Severe short stature Depressivity Congestive heart failure Cardiomyopathy Dysarthria Motor delay Increased proinsulin:insulin ratio Anophthalmia Bilateral ptosis Intellectual disability, profound Mild microcephaly Pain Ataxia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Short sternum Acute leukemia Blindness Severe intrauterine growth retardation Acute lymphoblastic leukemia Combined immunodeficiency Bifid scrotum Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Primary amenorrhea Tremor Hypertonia Anosmia Hypopigmentation of the skin Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Type I diabetes mellitus Exotropia Amblyopia Recurrent urinary tract infections Choanal atresia Microcornea Falls Visual loss Arachnodactyly Congenital cataract Attention deficit hyperactivity disorder Coloboma Rigidity Macrotia Reduced visual acuity Gait ataxia Glaucoma Blue nevus


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