Immunodeficiency, and Constipation

Diseases related with Immunodeficiency and Constipation

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

Top 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

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Other less relevant matches:

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Constipation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Constipation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Abnormality of the dentition

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Ventricular septal defect Behavioral abnormality Abnormal facial shape Epicanthus Low-set ears Patent ductus arteriosus Hypertelorism Failure to thrive Generalized hypotonia Short stature Global developmental delay Microcephaly Hearing impairment Joint hypermobility Atrial septal defect Sinusitis Clinodactyly of the 5th finger Facial asymmetry Intellectual disability, moderate Prominent forehead Downslanted palpebral fissures Decreased antibody level in blood Thrombocytopenia Depressed nasal bridge Cataract Syndactyly Gastroesophageal reflux Abnormality of cardiovascular system morphology Autism Feeding difficulties in infancy Craniosynostosis Carious teeth Deeply set eye Cryptorchidism Abnormal cardiac septum morphology EEG abnormality Hypothyroidism Dolichocephaly Thin upper lip vermilion Abnormal heart morphology Otitis media Macrotia Agenesis of corpus callosum Optic atrophy Myopia Long philtrum Intellectual disability, mild Diarrhea Macrocephaly Cognitive impairment Hypocalcemia Glaucoma Micrognathia Hypospadias Abnormality of dental enamel Pneumonia Hip dislocation Eczema Arrhythmia Dysphagia Abnormal form of the vertebral bodies Growth delay Aganglionic megacolon Neoplasm Anteverted nares Short neck Hypoglycemia Osteoporosis Splenomegaly Frontal bossing High palate Leukemia Feeding difficulties

Rare Symptoms - Less than 30% cases

Flexion contracture Hypoplasia of dental enamel 2-3 toe syndactyly Postnatal growth retardation Pes planus Chorioretinal coloboma Postural instability Retrognathia Hypertension Gastrointestinal hemorrhage Tetralogy of Fallot Skeletal dysplasia Microdontia Joint hyperflexibility Sudden cardiac death Hypoplasia of the maxilla Low-set, posteriorly rotated ears Neurofibromas Pectus excavatum Delayed skeletal maturation Joint laxity Convex nasal ridge Carcinoma Toe syndactyly Unsteady gait Iris coloboma Coloboma Meningioma Hyperactivity Lymphedema Umbilical hernia Dental crowding Long eyelashes Dental malocclusion Hydronephrosis Accelerated skeletal maturation Anxiety Vesicoureteral reflux Renal cyst Thick eyebrow Abnormality of the pinna Bulbous nose Multicystic kidney dysplasia Sacral dimple Capillary hemangioma Lymphopenia Single transverse palmar crease Pain Coarctation of aorta Delayed speech and language development Abnormality of retinal pigmentation Ventriculomegaly Polycystic kidney dysplasia Obesity Keloids Recurrent upper respiratory tract infections Malar flattening Headache Overweight Abnormal palate morphology Nasolacrimal duct obstruction Round face Autistic behavior Lymphoma Abnormality of the skeletal system Osteopenia Proptosis Skin rash Intestinal malrotation Long face Recurrent fractures Asthma Prominent nose Schizophrenia Anal atresia Finger syndactyly Attention deficit hyperactivity disorder Telecanthus Recurrent skin infections Chronic otitis media Squamous cell carcinoma Bronchitis Spina bifida Laryngomalacia Narrow mouth Varicose veins Anemia Hepatomegaly Fever Cardiomyopathy Vomiting Cerebral atrophy Encephalopathy Abnormal thrombocyte morphology Patellar dislocation Hand polydactyly Neutropenia Coma Overgrowth Dehydration Pancytopenia Tachypnea Bipolar affective disorder Abnormal lung lobation Episodic vomiting Polyhydramnios Narrow chest Hemihypertrophy Depressivity Intrauterine growth retardation Hydrocephalus Microphthalmia Talipes equinovarus Inguinal hernia Epibulbar dermoid Lipodystrophy Sirenomelia Macrodactyly Cachexia Occipital myelomeningocele Abnormal pulmonary valve morphology Epidermal acanthosis Abnormality of the tonsils High myopia Portal vein thrombosis Calvarial hyperostosis Tricuspid atresia Metatarsus valgus Epidermal nevus Growth abnormality Lymphangioma Testicular neoplasm Retinal arteriolar tortuosity Upper limb asymmetry Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Nephrogenic diabetes insipidus Anorectal anomaly Facial hyperostosis Narrow internal auditory canal Subcutaneous nodule Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Generalized hirsutism Abnormality of the nail Abnormal vertebral morphology Hemangioma Seborrheic dermatitis Thickened skin Abnormality of the metacarpal bones Thymus hyperplasia Open mouth Heterotopia Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Nevus sebaceous Platybasia Arrhinencephaly Goiter Palmoplantar hyperkeratosis Reduced number of teeth Impaired T cell function Venous malformation Generalized hyperkeratosis Neoplasm of the central nervous system Confusion Deep venous thrombosis Pericardial effusion Multiple lipomas Joint stiffness Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Generalized hyperpigmentation Macroorchidism Pulmonary embolism Abnormality of the wrist Spinal canal stenosis Arteriovenous malformation Abnormality of skin pigmentation Irregular hyperpigmentation Neoplasm of the lung Polymicrogyria Lipoma Exostoses Abnormality of finger Papilledema Abdominal distention Spinal cord compression Gliosis Kyphoscoliosis Disproportionate tall stature Nevus Hyperostosis Melanocytic nevus Thrombophlebitis Nystagmus Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Kyphosis Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Diabetes insipidus Hyperkeratosis Thin bony cortex Visual loss Myofibrillar myopathy Buphthalmos Arterial thrombosis Abdominal pain Decreased muscle mass Anisocytosis Hallux valgus Venous thrombosis Lower limb asymmetry Abnormality of the neck Avascular necrosis of the capital femoral epiphysis Neoplasm of the thymus Infantile muscular hypotonia Leukodystrophy Aortic valve stenosis Bone marrow hypocellularity Horseshoe kidney Holoprosencephaly Azoospermia Pyloric stenosis Short thumb Trigonocephaly Ectropion Heart murmur Hammertoe Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Short toe Amblyopia Partial agenesis of the corpus callosum Neurological speech impairment Hernia Clinodactyly Recurrent respiratory infections Hypogonadism High forehead Camptodactyly Small for gestational age Talipes Pachygyria Smooth philtrum Tachycardia Bruising susceptibility Microcornea Premature birth Webbed neck Growth hormone deficiency Atrioventricular canal defect Slender finger Congestive heart failure Abnormality of the anus U-Shaped upper lip vermilion Central hypothyroidism Clitoral hypoplasia Macular hypoplasia Giant platelets Toe clinodactyly Annular pancreas Long hallux Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Megakaryocyte dysplasia Abnormality of the curvature of the vertebral column Systemic lupus erythematosus Urethral stenosis Abnormality of the head Natal tooth Chronic constipation Transposition of the great arteries Wheezing Abnormal eyelash morphology Double outlet right ventricle Missing ribs Diastasis recti Retinal dysplasia Eyelid coloboma Broad columella Duodenal atresia Ectopic anus Mitral stenosis Broad hallux phalanx Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Short nose Brachydactyly Central heterochromia Truncal obesity Narrow palate Spina bifida occulta Bicuspid aortic valve Impulsivity Broad hallux Delayed cranial suture closure Congenital glaucoma Wide anterior fontanel Dislocated radial head Neuroblastoma Shawl scrotum Poor coordination Self-mutilation Obstructive sleep apnea Low hanging columella Low anterior hairline Cafe-au-lait spot Short attention span Abnormality of the kidney Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Hyperreflexia Respiratory distress Polydactyly Respiratory tract infection Exotropia Pulmonic stenosis Hirsutism Highly arched eyebrow Low posterior hairline Mitral regurgitation Broad thumb Stereotypy Hypoplastic iliac wing Dyslexia Spasticity Deviated nasal septum Vascular ring Bifid uterus Agoraphobia Large foramen magnum Narrow maxilla Premature thelarche Talon cusp Dyscalculia Enlarged tonsils Papillary cystadenoma of the epididymis High axial triradius Abnormal number of teeth Radial deviation of thumb terminal phalanx Plantar crease between first and second toes Sensorineural hearing impairment Duplication of phalanx of hallux Chorioretinal dystrophy Flared iliac wings Phonophobia Abnormality of refraction Tetany Pheochromocytoma Medulloblastoma Abnormal cornea morphology Rhabdomyosarcoma Broad distal phalanx of finger Tethered cord Duane anomaly Facial grimacing Abnormality of the cervical spine Parietal foramina Short upper lip Bimanual synkinesia Frontal upsweep of hair Prominent fingertip pads Hypoplasia of the thymus Bronchiolitis Corneal neovascularization Cutaneous finger syndactyly Gait disturbance Motor delay Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Mixed hearing impairment Absent speech Cutaneous syndactyly Cardiomegaly Pulmonary arterial hypertension Abnormality of the face Bradycardia Cardiac arrest Ventricular tachycardia Ventricular arrhythmia Prolonged QT interval Optic nerve hypoplasia Atrioventricular block Patent foramen ovale Obsessive-compulsive behavior Ventricular fibrillation Multiple joint contractures Midface retrusion Hyporeflexia Syncope Prominent supraorbital ridges Cerebral visual impairment Pointed chin Short chin Abnormality of the outer ear Increased intracranial pressure Poor head control Large hands Tall stature Hypoplastic toenails Cellulitis Weak cry Poor eye contact Impaired pain sensation Palpebral edema Hypohidrosis Chronic diarrhea Neonatal hypotonia Thick vermilion border Aggressive behavior Irritability Protruding ear Hypermetropia Nausea and vomiting Hepatic failure High, narrow palate Nephrolithiasis Sleep disturbance Full cheeks Hepatitis Broad-based gait Abnormality of the genital system Renal dysplasia Esotropia Hypertrophic cardiomyopathy Arachnoid cyst Ketosis Coarse facial features Mandibular prognathia Propionicacidemia Intolerance to protein Propionyl-CoA carboxylase deficiency Increased level of hippuric acid in urine Cerebellar hemorrhage Hyperglycinuria Acute encephalopathy Hyperglycinemia Methylmalonic aciduria Organic aciduria Ketonuria Ketoacidosis Limb hypertonia Cough Lethargy Dystonia Acidosis Muscular hypotonia of the trunk Apnea Developmental regression Stroke Lactic acidosis Poor appetite Metabolic acidosis Aciduria Pancreatitis Hyperammonemia Ischemic stroke Abnormality of immune system physiology Erythema Pruritus Myopathy Severe viral infections Fractures of the long bones Recurrent fungal infections T-cell lymphoma Eczematoid dermatitis Recurrent bacterial skin infections Onychomycosis Recurrent Staphylococcus aureus infections Persistence of primary teeth Recurrent candida infections Opportunistic infection Lung abscess Anal canal squamous carcinoma Squamous cell carcinoma of the vulva Impaired neutrophil chemotaxis B lymphocytopenia Decrease in T cell count Wide nose Urticaria Thick lower lip vermilion Inflammatory abnormality of the skin Skin ulcer Hemivertebrae Recurrent bacterial infections Eosinophilia Recurrent sinusitis Red hair Atopic dermatitis Recurrent bronchitis Chronic mucocutaneous candidiasis Verrucae Recurrent sinopulmonary infections Increased IgE level Abnormality of the periventricular white matter Bruxism Abnormality of the uterus Abnormal bone ossification Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Neonatal short-limb short stature Susceptibility to chickenpox Abnormality of chromosome stability Abnormality of the pancreas Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Cellular immunodeficiency Metaphyseal cupping Diaphyseal thickening Congenital hypoplastic anemia Abnormal diaphysis morphology Mucopolysacchariduria Normocytic anemia Hypersplenism Large face Spinal dysraphism Flaring of lower rib cage Pulmonary lymphoma B-cell lymphoma Hypoparathyroidism Dysphasia Bowel incontinence Hyperthyroidism Foot polydactyly Posterior embryotoxon Turricephaly Multiple renal cysts Overfolded helix Abnormality of the skull Meningocele Truncus arteriosus Abnormal eyelid morphology Atelectasis Chronic obstructive pulmonary disease Acne Abnormality of the thorax Cleft palate Prominent nasal bridge Upslanted palpebral fissure Conductive hearing impairment Myalgia Arthritis Autoimmunity Short philtrum Arachnodactyly Cholelithiasis Specific learning disability Renal hypoplasia Choanal atresia Purpura Hypopigmented skin patches Nasal speech Aplastic anemia Generalized joint laxity Heat intolerance Small hand Pectus carinatum Arthrogryposis multiplex congenita Hypotrichosis Malabsorption Micromelia Short palm Hypopigmentation of the skin Hyperlordosis Abnormality of the ribs Lumbar hyperlordosis Blue sclerae Fine hair Depressed nasal ridge Abnormality of the metaphysis Sparse hair Brachycephaly Bronchiectasis Tongue thrusting Concave nasal ridge Delayed CNS myelination Periorbital fullness Toenail dysplasia Cerebellar cortical atrophy Hyperorality Fulminant hepatic failure Severe short stature Hair-pulling Recurrent pyelonephritis Visual impairment Respiratory insufficiency Dilatation Alopecia Bowing of the long bones Abnormality of epiphysis morphology Tracheal stenosis Hypoplasia of the odontoid process Abnormality of the hip bone High hypermetropia Metaphyseal dysplasia Macrocytic anemia Hodgkin lymphoma Anal stenosis Esophageal atresia Basal cell carcinoma Distal arthrogryposis Exocrine pancreatic insufficiency Thrombocytosis Upper limb undergrowth Heart block Fair hair Tibial bowing Limited elbow extension Rhizomelia Disproportionate short-limb short stature Gingival overgrowth Sparse and thin eyebrow Short ribs Sparse eyelashes Neoplasm of the skin Reduced tendon reflexes Abnormality of pelvic girdle bone morphology Femoral bowing Genu varum Portal hypertension Metaphyseal widening Cone-shaped epiphysis Short thorax Mesomelia Recurrent mycobacterial infections


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