Cognitive impairment, and Blue sclerae

Diseases related with Cognitive impairment and Blue sclerae

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


Top matches:

Medium match ALKAPTONURIA


Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Medium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

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Other less relevant matches:

Medium match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Medium match SHPRINTZEN-GOLDBERG SYNDROME


Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Medium match CARTILAGE-HAIR HYPOPLASIA


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

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Top 5 symptoms//phenotypes associated to Cognitive impairment and Blue sclerae

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Prominent forehead Delayed eruption of teeth Growth delay Generalized hypotonia Strabismus Scoliosis Muscular hypotonia Narrow mouth Aplasia/Hypoplasia of the abdominal wall musculature Brachydactyly Abnormality of the skeletal system Hydrocephalus Joint hypermobility Brachycephaly Proptosis High forehead Narrow chest Joint hyperflexibility Pectus carinatum Osteolysis Seizures Joint laxity Umbilical hernia Delayed skeletal maturation Severe short stature Deeply set eye Alopecia Visual impairment Microcephaly Spasticity Pain Dilatation Aortic aneurysm Hypertension Abnormality of skin pigmentation Osteoarthritis Abnormality of the nail

Rare Symptoms - Less than 30% cases


Dermal translucency Recurrent infections Obesity Abnormality of the urinary system Protruding ear Low-set, posteriorly rotated ears Esophageal atresia Microdontia Arthritis Telecanthus Depressed nasal ridge Lymphopenia Diarrhea Intrauterine growth retardation Respiratory distress Inguinal hernia Motor delay Abnormal facial shape Back pain Neoplasm Hearing impairment Kyphosis High, narrow palate Mitral valve prolapse Small face Spondylolisthesis Osteolytic defects of the phalanges of the hand Constipation High pitched voice Keratitis Retrognathia Cardiomyopathy Malabsorption Joint stiffness Camptodactyly of finger Accelerated skeletal maturation Lymphoma Triangular face Telangiectasia of the skin Small hand Short palm Thin vermilion border Supernumerary ribs Clinodactyly Abnormal form of the vertebral bodies Wide nasal bridge Hypertelorism High palate Low-set ears Cleft palate Joint dislocation Cryptorchidism Ptosis Myopia Talipes equinovarus Anteverted nares Prematurely aged appearance Truncal obesity Abnormality of the metaphysis Pneumonia Bowing of the long bones Skeletal dysplasia Metaphyseal widening Hypoplasia of the maxilla Hypodontia Postural instability Abnormal heart valve morphology Short distal phalanx of finger Carious teeth Abnormal joint morphology Craniosynostosis Hyperlordosis Apnea Irregular hyperpigmentation Abnormality of the skin Malar flattening Splenomegaly Abnormality of the dentition Hearing abnormality Frontal bossing Macrocephaly Low back pain Hepatomegaly Anemia Respiratory insufficiency Epicanthus Growth hormone deficiency Fragile skin Abnormality of the face Abnormality of dental morphology Sleep apnea Abnormality of the fingernails Narrow palate Gingival overgrowth Feeding difficulties Short toe Abnormality of epiphysis morphology Abnormality of pelvic girdle bone morphology Arteriovenous fistula Cigarette-paper scars Abnormal intestine morphology Arterial dissection Absent earlobe C1-C2 vertebral abnormality Internal hemorrhage Flexion contracture Tinnitus Colonic diverticula Abnormality of the gingiva Peripheral arteriovenous fistula Abnormal oral frenulum morphology Abnormality of cardiovascular system morphology Hypospadias Gastrointestinal infarctions Ascending tubular aorta aneurysm Excessive wrinkled skin Abnormality of hair texture Renovascular hypertension Gingival recession Normal pressure hydrocephalus Hypoplastic lacrimal duct Dural ectasia Short neck Depressed nasal bridge Hypermobility of distal interphalangeal joints Hemothorax Atlantoaxial dislocation Premature delivery because of cervical insufficiency or membrane fragility Cystocele Abdominal wall muscle weakness Cranial asymmetry Pulmonary artery aneurysm Arteriovenous fistulas of celiac and mesenteric vessels Hallux varus Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Minimal subcutaneous fat Ocular pain Periorbital edema Arterial stenosis Keratoconus Transient ischemic attack Aplasia/Hypoplasia of the eyebrow Abnormal bleeding Macule Narrow nasal bridge Scleroderma Narrow nose Abnormal eyelash morphology Subarachnoid hemorrhage Gingivitis Dilatation of the cerebral artery Alopecia of scalp Hemoptysis Premature birth Premature loss of teeth Sprengel anomaly Telangiectasia Subcutaneous nodule Thin skin Bruising susceptibility Aortic dissection Premature loss of primary teeth Redundant skin Migraine Pneumothorax Hypokalemia Congenital hip dislocation Bladder diverticulum Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Glaucoma Rheumatoid arthritis Periodontitis Melanocytic nevus Short chin Hip dislocation Vertigo Varicose veins Flat face Hematochezia Cardiac arrest Abnormally large globe Immunodeficiency Mitral valve calcification Thrombocytopenia Abnormality of the distal phalanx of finger 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 Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormal T cell morphology Ataxia Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Pulmonary lymphoma Nystagmus Metaphyseal cupping Acidosis Gastrointestinal dysmotility Mitochondrial myopathy Exertional dyspnea Glucose intolerance Ragged-red muscle fibers Exercise intolerance Increased serum lactate Delayed myelination Brain atrophy Cirrhosis Lactic acidosis Paresthesia Poor speech Dyspnea Syndactyly Babinski sign Hyporeflexia Myopathy Hyperreflexia Muscle weakness Ankyloglossia Rotary nystagmus Cerebral visual impairment Chorea Abnormality of movement Toe syndactyly Kyphoscoliosis Absent speech Abnormality of chromosome stability Cellular immunodeficiency Macrotia Lumbar hyperlordosis Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Sparse eyelashes Hypocalcemia Short ribs Sparse and thin eyebrow Abnormality of retinal pigmentation Rhizomelia Bronchiectasis Aganglionic megacolon Fine hair Abnormality of the ribs Arterial tortuosity Convex nasal ridge Decreased antibody level in blood Gastrointestinal hemorrhage Hypopigmentation of the skin Neutropenia Micromelia Hypotrichosis Arthrogryposis multiplex congenita Leukemia Abnormal cardiac septum morphology Sparse hair Carcinoma EEG abnormality Sacral dimple Genu varum Metaphyseal chondrodysplasia Hypoplasia of the odontoid process Aplasia/Hypoplasia affecting the eye Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Anal stenosis Portal hypertension Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Disproportionate short-limb short stature Abnormality of the foot Gastroparesis Delayed menarche Long philtrum Hypertonia Hypoplasia of the corpus callosum Ventricular septal defect Delayed speech and language development Aminoaciduria Atherosclerosis Reduced bone mineral density Lymphoid interstitial pneumonia Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Immune dysregulation Diabetes mellitus Concave nasal ridge Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature External genital hypoplasia Reduced number of teeth Short long bone Hypercholesterolemia Increased body weight Hypohidrosis Chronic diarrhea Upslanted palpebral fissure Nephrolithiasis Hypoplasia of penis Wide intermamillary distance Lipodystrophy Patent foramen ovale Pterygium Acanthosis nigricans Sandal gap Finger clinodactyly Cafe-au-lait spot Decreased body weight Sparse scalp hair Epidermal acanthosis Type II diabetes mellitus Webbed neck Thin upper lip vermilion Broad nasal tip Short foot Highly arched eyebrow Everted lower lip vermilion Inability to walk Smooth philtrum Synophrys Small for gestational age Postnatal growth retardation Muscular hypotonia of the trunk Anxiety Abnormal lung morphology Eczema Agitation Chronic pain Abnormal vertebral morphology Small nail Prominent nose Recurrent fractures Hepatosplenomegaly Arthropathy Joint swelling Osteoporosis Ankylosis Midface retrusion Abnormality of the nose Dark urine Increased bone mineral density Aortic valve calcification Ochronosis Pigmentation of the sclera Tendonitis Intervertebral disk calcification Thickened Achilles tendon Tendon rupture Coronary artery calcification Prostatitis Cartilage destruction Calcification of cartilage Bone pain Wormian bones Progressive visual loss Absent frontal sinuses Delayed puberty Abnormality of vision Hypoglycemia Growth abnormality Abnormality of the ear Vertebral fusion Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Delayed eruption of primary teeth Hyperparathyroidism Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Ridged nail Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of the thorax Increased susceptibility to fractures Radial deviation of finger Delayed cranial suture closure Lateral clavicle hook Feeding difficulties in infancy Interphalangeal joint contracture of finger Dental malocclusion Intestinal malrotation Bifid uvula Arachnodactyly Abnormality of metabolism/homeostasis Genu valgum Intervertebral disc degeneration Dolichocephaly Arthralgia Abnormality of the pinna Camptodactyly Mitral regurgitation Conductive hearing impairment Pes planus Osteopenia Gastroesophageal reflux Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Hernia Abnormality of the eye Atrial septal defect Ventriculomegaly Choanal atresia Amblyopia Retinal vascular proliferation Dislocated radial head Abnormal aortic valve morphology Cloverleaf skull Communicating hydrocephalus Missing ribs Genu recurvatum Microglossia Obstructive sleep apnea Shallow orbits Arnold-Chiari type I malformation Aortic root aneurysm Anteriorly placed anus Thin ribs Wide anterior fontanel Slender finger Abnormality of the sternum Disproportionate tall stature Metatarsus adductus Hammertoe Elbow dislocation Ectopia lentis Hyperextensible skin Arnold-Chiari malformation Infantile muscular hypotonia Aortic regurgitation Joint contracture of the hand Downslanted palpebral fissures Broad nail Reduced subcutaneous adipose tissue Increased serum insulin-like growth factor 1 Skin rash Erythema Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Microphthalmia Congestive heart failure Gait disturbance Aciduria Myocardial infarction Cataract Burkitt lymphoma Finger syndactyly Hypoplastic facial bones Prominent scalp veins Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Abnormality of the rib cage Maternal diabetes Severe failure to thrive Severe intrauterine growth retardation Multiple cafe-au-lait spots Attention deficit hyperactivity disorder Corneal opacity Abnormal hand morphology Uveitis Ridged fingernail Abnormal chorioretinal morphology Absent hand Retinal hemorrhage Asymmetric growth Deviation of finger Cerebral ischemia Verrucae Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Abnormality of immune system physiology Oral cleft Supernumerary nipple Hemiplegia/hemiparesis Encephalitis Eosinophilia Hypopigmented skin patches Spina bifida occulta Abnormality of dental enamel Abnormality of the hair Skin ulcer Pulmonary arterial hypertension Abnormal blistering of the skin Retinal detachment Abnormal activity of mitochondrial respiratory chain



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Upslanted palpebral fissure, related diseases and genetic alterations Macrocephaly and Hypopigmentation of the skin, related diseases and genetic alterations Ptosis and Lumbar hyperlordosis, related diseases and genetic alterations Ptosis and Craniosynostosis, related diseases and genetic alterations

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