Muscular hypotonia, and Bronchiectasis

Diseases related with Muscular hypotonia and Bronchiectasis

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

Top matches:

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Other less relevant matches:

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

CILIARY DYSKINESIA, PRIMARY, 12; CILD12 Is also known as ciliary dyskinesia, primary, 12, without situs inversus

Related symptoms:

  • Short stature
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 12; CILD12

CILIARY DYSKINESIA, PRIMARY, 11; CILD11 Is also known as ciliary dyskinesia, primary, 11, without situs inversus

Related symptoms:

  • Short stature
  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 11; CILD11

Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Sinusitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Immunodeficiency Brachydactyly Anemia Alopecia Cognitive impairment Failure to thrive Scoliosis Intellectual disability Decreased antibody level in blood Gingival overgrowth Pneumonia Decreased body weight Anteverted nares Global developmental delay Chronic rhinitis Hernia Nasal obstruction Hypertelorism Lymphopenia Respiratory distress Dilatation Dyspnea Lymphoma

Rare Symptoms - Less than 30% cases

Strabismus Neoplasm Long philtrum Growth delay Upper eyelid edema Hypergonadotropic hypogonadism Joint hypermobility Sparse and thin eyebrow Hypogonadism Retrognathia Pes planus Joint laxity Sparse hair Ichthyosis Overgrowth Thick vermilion border Delayed skeletal maturation Depressed nasal bridge Psoriasiform dermatitis Exocrine pancreatic insufficiency B-cell lymphoma Cellular immunodeficiency Abnormality of chromosome stability Hallux valgus Non-Hodgkin lymphoma Flexion contracture Spasticity Telangiectasia Clinodactyly Diabetes mellitus Growth hormone deficiency Proptosis Polyneuropathy Hodgkin lymphoma Gait disturbance Epicanthus Low-set, posteriorly rotated ears Hepatomegaly Delayed puberty Splenomegaly Combined immunodeficiency Severe short stature Carcinoma Abnormal cardiac septum morphology Chronic sinusitis Pectus carinatum Leukemia Hypotrichosis Malabsorption Blue sclerae Reduced tendon reflexes Severe combined immunodeficiency Wide nasal bridge Abnormality of the foot Abnormal facial shape Myoclonus Rhinorrhea Cough Abnormality of the skeletal system Dysarthria High palate Heart block Joint hyperflexibility Full cheeks Sensorineural hearing impairment Umbilical hernia Ataxia Hearing impairment Stridor Seizures Abnormal central microtubular pair morphology of respiratory motile cilia Dyskinesia Exercise intolerance Ciliary dyskinesia Rhinitis Productive cough Cutis laxa Prematurely aged appearance Inflammatory abnormality of the skin Asthma Conductive hearing impairment Aortic aneurysm Neutropenia Redundant skin Abnormality of the hand Recurrent pharyngitis Retroperitoneal fibrosis Short middle phalanx of finger Seborrheic keratosis Polyhydramnios Facial telangiectasia Dysphagia Tachypnea Nail dystrophy Meningitis Purpura Decreased serum testosterone level Adrenal insufficiency Communicating hydrocephalus Autoimmune thrombocytopenia Hypoglycemia Histiocytosis Skin nodule Finger syndactyly Myelofibrosis Panniculitis Generalized lymphadenopathy Episcleritis Corneal arcus Hyperplasia of the maxilla Broad finger Snoring Bilateral camptodactyly Stiff skin Pancreatic hypoplasia Abnormality of cardiovascular system physiology Highly arched eyebrow Cervical lymphadenopathy Broad thumb Reticulocytopenia Varicose veins Polycythemia Aspiration pneumonia Amenorrhea Hypertrichosis Hypertriglyceridemia Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Tracheomalacia Mitral valve prolapse Decreased testicular size Hyperpigmentation of the skin Short columella Wide intermamillary distance Bronchomalacia Parietal bossing Recurrent fractures Bronchospasm Flat face Cleft upper lip Lymphadenopathy Primary amenorrhea Abnormality of digit Abnormal eyebrow morphology Leukocytosis Enlarged kidney Interstitial pulmonary abnormality Severe sensorineural hearing impairment Episodic fever Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hyperglycemia Gynecomastia Exertional dyspnea Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Aspiration Vitiligo Female hypogonadism Pectus excavatum Multiple cafe-au-lait spots Recurrent lower respiratory tract infections Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair IgA deficiency Myeloid leukemia Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Recurrent bronchitis Resting tremor Premature graying of hair Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Chromosome breakage Defective B cell differentiation Recurrent pneumonia Chronic lymphatic leukemia Increased sensitivity to ionizing radiation Decreased proportion of CD4-positive T cells Aplasia/Hypoplasia of the thymus Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Mucosal telangiectasiae Hypoplasia of the thymus Renal neoplasm Absent Achilles reflex Progressive spinal muscular atrophy Spinocerebellar tract degeneration Immunoglobulin IgG2 deficiency Lymphoproliferative disorder Decreased/absent ankle reflexes Interosseus muscle atrophy IgE deficiency Abnormality of the testis Oculomotor apraxia Truncal ataxia Alopecia totalis Chronic hepatitis Syndactyly Abnormality of the liver Anxiety Elevated hepatic transaminase Midface retrusion Difficulty walking Gait ataxia Dystonia Tremor Neurological speech impairment Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Nystagmus Microcephaly Trachyonychia Central adrenal insufficiency Alopecia areata Adrenocorticotropic hormone deficiency Distal muscle weakness Abnormality of eye movement Abnormality of the hair Hepatitis Abnormal vertebral morphology Cafe-au-lait spot Limb ataxia Choreoathetosis Nonmotile sperm Intention tremor Pancytopenia Type II diabetes mellitus Apraxia Otitis media Abnormality of movement Situs inversus totalis Chorea Neonatal respiratory distress Recurrent sinusitis Progressive cerebellar ataxia Abnormal ciliary motility Abnormal cerebellum morphology Distal amyotrophy Unsteady gait Cerebellar atrophy Large face Retinopathy Sparse scalp hair Generalized osteoporosis Abnormality of the vasculature Palpebral edema Abnormality of the sternum Prolonged bleeding time High pitched voice Premature ovarian insufficiency Increased susceptibility to fractures Hyperextensible skin Thick lower lip vermilion Urethral stenosis High myopia Narrow forehead Single transverse palmar crease Everted lower lip vermilion Hirsutism Bruising susceptibility Coarse facial features Osteoporosis Downslanted palpebral fissures Macrocephaly Eclabion Irregular dentition Cortical myoclonus Brachycephaly Small hand Short palm Micromelia Narrow chest Arthrogryposis multiplex congenita Hyperlordosis EEG abnormality Skeletal dysplasia Macrotia Prominent forehead Abnormal lip morphology Constipation Thrombocytopenia Diarrhea Cardiomyopathy Short neck Respiratory insufficiency Myopia Hypertension Visual impairment Infra-orbital fold Cryptorchidism Autoimmune neutropenia Postural instability Hoarse voice Pulmonary artery stenosis Aortic root aneurysm Abnormal heart valve morphology Infantile spasms Emphysema Heart murmur Systemic lupus erythematosus Venous thrombosis Aortic regurgitation Abnormality of the face Raynaud phenomenon Mitral regurgitation Ventricular hypertrophy Coarctation of aorta Pulmonic stenosis Skin rash Respiratory failure Inguinal hernia Renal insufficiency Fatigue Feeding difficulties Aortic dissection Right ventricular hypertrophy Vasculitis in the skin Sensory impairment Membranoproliferative glomerulonephritis Allergic rhinitis Atopic dermatitis Glomerulonephritis Recurrent skin infections Leukopenia Narrow palpebral fissure Vasculitis Eczema Hemolytic anemia Premature skin wrinkling Erythema Abnormality of the nervous system Gastroesophageal reflux Hyporeflexia Repeated pneumothoraces Aortic rupture Bowel diverticulosis Uterine prolapse Subglottic stenosis Upper airway obstruction Hypopigmentation of the skin Gastrointestinal hemorrhage Apnea Abnormally ossified vertebrae Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormal bone ossification Abnormality of humoral immunity Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Biconvex vertebral bodies Absent pubertal growth spurt Aplasia/Hypoplasia affecting the eye Intellectual disability, mild Abnormality of the kidney Camptodactyly Hepatosplenomegaly Hypothyroidism Micropenis Hyperkeratosis Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Edema Flaring of lower rib cage Atrial septal defect Hydrocephalus Ventriculomegaly Ventricular septal defect Frontal bossing Fever Hyperreflexia Ptosis Pulmonary lymphoma Susceptibility to chickenpox Metaphyseal chondrodysplasia Aplasia/Hypoplasia of the abdominal wall musculature Convex nasal ridge Short ribs Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Abnormality of retinal pigmentation Metaphyseal widening Rhizomelia Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Lumbar hyperlordosis Abnormality of the ribs Portal hypertension Cone-shaped epiphysis Abnormality of the pancreas Hypoplasia of the odontoid process Aplastic anemia Generalized joint laxity Tracheal stenosis Fair hair Upper limb undergrowth Overweight Thrombocytosis Distal arthrogryposis Esophageal atresia Anal stenosis Squamous cell carcinoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Intercostal retractions


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