Immunodeficiency, and Blue sclerae

Diseases related with Immunodeficiency and Blue sclerae

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

Top 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

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Other less relevant matches:

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

Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) 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 IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ).Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.

OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 Is also known as oi, type xiv

Related symptoms:

  • Hearing impairment
  • Abnormality of the dentition
  • Osteopenia
  • Recurrent fractures
  • Blue sclerae


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Top 5 symptoms//phenotypes associated to Immunodeficiency and Blue sclerae

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrotia Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Abnormality of the dentition Decreased antibody level in blood Kyphosis Recurrent fractures Dilatation Hernia Visual loss Joint laxity Respiratory tract infection Joint hypermobility Growth delay Microcephaly Severe short stature Hearing impairment Abnormal vertebral morphology Failure to thrive Global developmental delay Strabismus Bowing of the long bones Seizures Short stature Wide nasal bridge Muscular hypotonia

Rare Symptoms - Less than 30% cases

Tibial bowing Abnormality of pelvic girdle bone morphology Ptosis Cryptorchidism Cleft palate Abnormal facial shape Overweight Anal stenosis Micrognathia Thin bony cortex Lymphopenia Disproportionate short-limb short stature Generalized hypotonia Femoral bowing Metaphyseal widening Astigmatism High palate Epibulbar dermoid Epidermal acanthosis Platyspondyly Abnormality of the nail Hip dislocation Recurrent bacterial infections Abnormality of dental enamel Umbilical hernia Hyperkeratosis Recurrent respiratory infections Nystagmus Cataract Disproportionate tall stature Long palpebral fissure Hydroureter Long eyelashes Renal dysplasia Heterotopia Coarctation of aorta Polymicrogyria Abnormality of retinal pigmentation Abnormality of the kidney Intellectual disability, moderate Hydronephrosis Sparse and thin eyebrow Feeding difficulties Abnormality of the ribs Constipation Anteverted nares Splenomegaly Respiratory insufficiency Abnormal cardiac septum morphology Increased susceptibility to fractures Hypotrichosis Malabsorption Abnormality of the skeletal system Carcinoma Epicanthus Convex nasal ridge Delayed skeletal maturation Hypertension Diarrhea Depressed nasal bridge Anemia Neoplasm Gastrointestinal hemorrhage Alopecia Wormian bones Skeletal dysplasia Visual impairment Aganglionic megacolon Abnormal form of the vertebral bodies Unilateral chest hypoplasia Headache Scleritis Thin fingernail Clinodactyly of the 5th finger Abnormal pelvis bone morphology Abnormality of cardiovascular system morphology Ichthyosis follicularis Downslanted palpebral fissures Syndactyly Broad long bones Optic atrophy Hypertelorism Macrocephaly Fever Low-set ears Abdominal pain Pain Yellow papule Glaucoma Abdominal distention Thickened skin Subcutaneous nodule Open mouth High myopia Lens luxation Overgrowth Round face Nevus Multiple prenatal fractures Gliosis Sudden cardiac death Renal cyst Proptosis Long face Abnormality of skin pigmentation Confusion Facial asymmetry Carious teeth Dolichocephaly Finger syndactyly Cerebral cortical hemiatrophy Craniosynostosis Joint stiffness Kyphoscoliosis Hypoplasia of the bladder Corneal scarring Paronychia Urticaria Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Absent eyebrow Keratitis Intestinal obstruction Bifid scrotum Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Scaling skin Beaded ribs Abnormality of the hand Atonic seizures Plagiocephaly Opacification of the corneal stroma Conjunctivitis Hemivertebrae Multicystic kidney dysplasia Crumpled long bones Abnormality of the hair Hypohidrosis Hypoplasia of dental enamel Omphalocele Choanal atresia Oligohydramnios Congenital ichthyosiform erythroderma Ectrodactyly Episcleritis Olivopontocerebellar atrophy Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Sinusitis Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Abnormality of calvarial morphology Alopecia totalis Recurrent corneal erosions Oligodactyly Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Lymphedema Reduced number of teeth Generalized hirsutism Testicular neoplasm Retinal hamartoma Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Upper limb asymmetry Retinal nonattachment Keloids Nephrogenic diabetes insipidus Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Bronchogenic cyst Abnormal subcutaneous fat tissue distribution Myofibrillar myopathy Motor delay Lymphadenopathy Delayed speech and language development Premature occlusive vascular stenosis Medial calcification of large arteries Peau d'orange Calcification of falx cerebri Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Arteriosclerosis Angina pectoris Abnormality of the sternum Cerebral hemorrhage Neoplasm of the thymus Macular degeneration Mitral valve prolapse High, narrow palate Dysphagia Skin rash Reduced visual acuity Broad forehead Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Arachnodactyly Long penis Buphthalmos Venous thrombosis Diabetes insipidus Generalized hyperpigmentation Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Pericardial effusion Premature birth Thin skin Hallux valgus Large fontanelles Decreased muscle mass Hyperostosis Spinal canal stenosis Nonimmune hydrops fetalis Melanocytic nevus Chorioretinal coloboma Lipodystrophy Cachexia Growth abnormality Pulmonary insufficiency Medial calcification of medium-sized arteries Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Pulmonary embolism Irregular hyperpigmentation Arterial thrombosis Pathologic fracture Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Thin ribs Abnormal lung lobation Vertebral compression fractures Generalized osteoporosis Biconcave vertebral bodies Osteopenia Progressive hearing impairment Postaxial hand polydactyly Capillary hemangioma Papilledema Exostoses Lipoma Congestive heart failure Neoplasm of the lung Small for gestational age Eczema Pilonidal sinus Specific learning disability Abnormal diaphysis morphology Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Diaphyseal thickening Long fibula Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Narrow vertebral interpedicular distance Non-Hodgkin lymphoma Heart block Renal insufficiency Hypoglycemia Jaundice Pes planus Hypothyroidism Micropenis Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hypospadias Depressivity Obesity Intellectual disability, mild Metaphyseal dysostosis Atrial septal defect Ventricular septal defect Brachydactyly Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Fair hair Upper limb undergrowth Feeding difficulties in infancy Arthrogryposis multiplex congenita Depressed nasal ridge Fine hair Lumbar hyperlordosis Lymphoma Postural instability Hypopigmentation of the skin Neutropenia Small hand Short palm Micromelia Joint hyperflexibility Narrow chest Leukemia Bronchiectasis Pectus carinatum Sparse hair Hyperlordosis Low-set, posteriorly rotated ears EEG abnormality Brachycephaly Prominent forehead Thrombocytopenia Cardiomyopathy Short neck Hepatomegaly Cognitive impairment Abnormality of the metaphysis Abnormality of epiphysis morphology Thrombocytosis Short thorax Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Mesomelia Squamous cell carcinoma Rhizomelia Cone-shaped epiphysis Portal hypertension Genu varum Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Short ribs Gingival overgrowth Anxiety Postnatal growth retardation Nail dysplasia Sclerosing cholangitis Frontal bossing Intrauterine growth retardation Flexion contracture Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Single ventricle Respiratory distress Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Ventriculomegaly Hypoplasia of the corpus callosum Trichorrhexis nodosa Scarring Ectodermal dysplasia Brain atrophy Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Dry skin Talipes Nail dystrophy Papule Corneal opacity Camptodactyly of finger Erythema Intellectual disability, severe Developmental regression Camptodactyly Mental deterioration Photophobia Polydactyly Cerebral cortical atrophy Hyperhidrosis Dementia Agenesis of corpus callosum Cerebellar hypoplasia Inguinal hernia Microphthalmia Anterior plagiocephaly Broad philtrum Abnormality of the pinna Dental malocclusion Purpura Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Cafe-au-lait spot Recurrent otitis media Small nail Congenital diaphragmatic hernia Microdontia Otitis media Growth hormone deficiency Prominent nose Abnormality of the urinary system Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Hemolytic anemia Hirsutism Wide nose Anal atresia Autoimmunity Coloboma Paralysis Protruding ear Abnormal dermatoglyphics Poor suck Small face IgA deficiency Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Hashimoto thyroiditis Autoimmune thrombocytopenia Thyroiditis Failure to thrive in infancy Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Celiac disease Right bundle branch block Bundle branch block Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Absent ossification of calvaria


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