Immunodeficiency, and Muscular hypotonia of the trunk

Diseases related with Immunodeficiency and Muscular hypotonia of the trunk

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

Top matches:

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Other less relevant matches:

Medium match PROPIONIC ACIDEMIA

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Medium match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

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

Symptoms // Phenotype % 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
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Nystagmus Feeding difficulties Abnormal facial shape Ventriculomegaly Depressed nasal bridge Cerebral cortical atrophy Thrombocytopenia Hypertonia Hypoplasia of the corpus callosum Postnatal growth retardation Intrauterine growth retardation Hearing impairment Delayed myelination Decreased antibody level in blood Hypertelorism Feeding difficulties in infancy Muscular hypotonia Recurrent respiratory infections Cerebral atrophy Micrognathia Neutropenia Hepatomegaly Low-set ears Cryptorchidism Small for gestational age Hypospadias Neurodevelopmental delay Pneumonia EEG abnormality Pancytopenia Long philtrum Lymphopenia Strabismus Anemia Epicanthus Combined immunodeficiency Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Deeply set eye High forehead Abnormality of immune system physiology Micropenis Abnormal cortical gyration Cerebellar atrophy Posteriorly rotated ears Developmental regression Hypogonadism Low-set, posteriorly rotated ears Dilatation Abnormal intestine morphology Cataract Thin vermilion border Recurrent bacterial infections Single transverse palmar crease Small hand Sepsis Coarse facial features Hypopigmentation of the skin Short palm Brachydactyly Anteverted nares Hyperreflexia Motor delay Cellular immunodeficiency Cerebellar hypoplasia Eczema High palate Respiratory distress Hyperhidrosis Optic atrophy Leukopenia Acidosis Open mouth Retrognathia Macrotia Dystonia Wide nose Limb hypertonia High, narrow palate Sleep disturbance Decreased fetal movement Cirrhosis Chromosome breakage Intellectual disability, severe Visual impairment Spasticity Sensorineural hearing impairment Scoliosis Abnormality of the thymus Abnormality of the nervous system Polymicrogyria Smooth philtrum Aggressive behavior Osteoporosis Growth hormone deficiency Polyhydramnios Microphthalmia Vomiting Cardiomyopathy Abnormal bleeding Ocular albinism Severe global developmental delay Progressive microcephaly Hypotelorism Abnormality of the dentition Myopathy Albinism Anosmia Flared metaphysis Telangiectasia Horseshoe kidney Hyperpigmentation of the skin Squamous cell carcinoma Epiphora Dermal atrophy Pterygium Neonatal respiratory distress Bone marrow hypocellularity Conjunctivitis Microretrognathia Myelodysplasia Truncal ataxia Sparse eyelashes Radial deviation of finger Sparse scalp hair Thick upper lip vermilion Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Sandal gap Intestinal atresia Microphallus Overlapping fingers Widely spaced teeth High anterior hairline Deep plantar creases Insomnia Abnormality of digit Slender finger Abnormality of the outer ear Mild short stature Nasal speech Abnormality of the voice Abnormality of the thorax Proximal placement of thumb Thick nasal alae Toe clinodactyly Oligohydramnios Alopecia Cerebral calcification Decreased testicular size Gastrointestinal hemorrhage Gliosis Abnormality of skin pigmentation Carious teeth Nail dystrophy Leukemia Carcinoma Hyporeflexia Flared nostrils Cupped ear Ataxia Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Neoplasm Pterygium of nails Pulmonary fibrosis Centrally nucleated skeletal muscle fibers Fair hair Renal tubular dysfunction Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Renal tubular acidosis Bronchitis Chronic mucocutaneous candidiasis Macular atrophy Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Increased body weight Aspiration Decreased liver function Abnormality of retinal pigmentation Hypoplasia of the pons Recurrent viral infections Left ventricular hypertrophy Schizencephaly White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Abnormal macular morphology Hypoplasia of the thymus Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Decreased body weight Heterotopia Premature graying of hair Testicular atrophy Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Ridged nail Fragile teeth Aplastic anemia Oral leukoplakia Blepharitis Premature loss of teeth Hodgkin lymphoma Generalized hyperpigmentation Acute myeloid leukemia Myeloid leukemia Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Brittle scalp hair Generalized hypopigmentation of hair Progressive neurologic deterioration Respiratory tract infection Cerebellar vermis hypoplasia Ventricular hypertrophy Narrow forehead Triangular face Thick vermilion border Pulmonary hypoplasia Cleft upper lip Congenital cataract Dilated cardiomyopathy Joint stiffness Cleft lip Split nail Hypertrophic cardiomyopathy Respiratory failure Rod-cone dystrophy Agenesis of corpus callosum Congestive heart failure Peripheral neuropathy Ptosis Cleft palate Muscle weakness Anal mucosal leukoplakia Bilateral single transverse palmar creases Pointed chin Congenital hypoparathyroidism Narrow face Propionyl-CoA carboxylase deficiency Platyspondyly Craniosynostosis Skeletal dysplasia Kyphoscoliosis Pectus excavatum Kyphosis Propionicacidemia Intolerance to protein Increased level of hippuric acid in urine Broad nasal tip Cerebellar hemorrhage Hyperglycinuria Acute encephalopathy Hyperglycinemia Episodic vomiting Methylmalonic aciduria Organic aciduria Ketonuria Anal atresia Full cheeks Ketosis Dislocated radial head Talipes equinovarus Severe platyspondyly Cervical instability Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Severe combined immunodeficiency Metaphyseal dysplasia Prominent nose Disproportionate short stature Opisthotonus Erythroderma Epiphyseal dysplasia Eosinophilia Coxa valga Inflammatory abnormality of the skin Generalized-onset seizure Limb undergrowth Ketoacidosis Poor appetite Polydactyly Increased sensitivity to ionizing radiation Abnormal muscle tone Congenital microcephaly CNS hypomyelination Absence seizures Cerebral visual impairment Postnatal microcephaly Absent speech Bronchiolitis obliterans Dermal translucency Generalized tonic-clonic seizures Bronchiolitis Prominent superficial veins Mild global developmental delay Emphysema Failure to thrive in infancy Wide anterior fontanel Abnormal lung morphology Midface retrusion Splenomegaly Generalized myoclonic seizures Ischemic stroke Lactic acidosis Hyperammonemia Tachypnea Pancreatitis Dehydration Overgrowth Aciduria Coma Metabolic acidosis Lethargy Interstitial pulmonary abnormality Stroke Apnea Hypoglycemia Constipation Arrhythmia Encephalopathy Fever Pierre-Robin sequence Arachnoid cyst Diarrhea Hyperkeratosis Hoarse voice Inguinal hernia Autistic behavior Protruding ear Joint laxity Autism Narrow mouth Hyperactivity Upslanted palpebral fissure Pes cavus Clinodactyly Attention deficit hyperactivity disorder Obesity Hernia Abnormality of cardiovascular system morphology Short nose Intellectual disability, mild Downslanted palpebral fissures Wide nasal bridge Delayed speech and language development Camptodactyly of finger Prominent nasal bridge Hypocalcemic seizures Congenital diaphragmatic hernia Sparse and thin eyebrow Cafe-au-lait spot Short thumb Abnormality of the genital system Fine hair Thick lower lip vermilion Small nail Interphalangeal joint contracture of finger Underdeveloped nasal alae Broad forehead Tapered finger Highly arched eyebrow Iris coloboma Long face Arachnodactyly Joint hyperflexibility Facial asymmetry Toe syndactyly Hypermetropia Patchy osteosclerosis Aplasia/Hypoplasia affecting the eye Elevated hepatic transaminase Chronic diarrhea Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Loss of consciousness Inflammation of the large intestine Hyperbilirubinemia Hypohidrosis Cholestasis Abnormal T cell morphology Hip dysplasia Focal-onset seizure Hepatic steatosis Postaxial polydactyly Malabsorption Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Abnormality of the liver Neonatal hypotonia Gastrointestinal inflammation Type II transferrin isoform profile Tetany Hypocalcemia Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Hypoplasia of penis Frontal bossing Convex nasal ridge Bifid uvula Short foot Astigmatism Corneal opacity Thin upper lip vermilion Prominent forehead Severe short stature Delayed skeletal maturation Acute bronchitis


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