Congestive heart failure, and Astigmatism

Diseases related with Congestive heart failure and Astigmatism

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Astigmatism that can help you solving undiagnosed cases.


Top matches:

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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Other less relevant matches:

Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Low match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Low match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Low match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dolichocephaly Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Astigmatism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Short stature Myopia Strabismus Hypertelorism Retinopathy Abnormal facial shape Micrognathia Generalized hypotonia Hyperlordosis Lumbar hyperlordosis Motor delay Hepatomegaly Hearing impairment Respiratory distress Visual impairment Severe short stature Arachnodactyly Respiratory insufficiency Cardiomyopathy Hypertension High palate Overgrowth Aortic dissection Dilatation Dental crowding Insulin resistance Keratoconus Gait disturbance Hernia Aortic root aneurysm Hypertrophic cardiomyopathy Aortic aneurysm Redundant skin Cognitive impairment Craniosynostosis Growth delay Gastroesophageal reflux Muscular hypotonia Intrauterine growth retardation Macrocephaly Frontal bossing Inguinal hernia Edema Restrictive ventilatory defect Fatigue Cardiomegaly Pectus carinatum Back pain Abnormality of skin pigmentation Heart murmur Pes cavus Osteopenia Hip dislocation Headache Muscle weakness Platyspondyly Abnormal lung morphology Pectus excavatum Short neck Glaucoma Pes planus Kyphoscoliosis Epicanthus Myopathy Flexion contracture

Rare Symptoms - Less than 30% cases


Diarrhea Fever Slender finger Abnormality of the kidney Thrombocytopenia Hypothyroidism Pain Renal insufficiency Abnormality of the dentition Scarring Dural ectasia Bone marrow hypocellularity Visual loss Stroke Coarse hair Hyperlipidemia Abnormal form of the vertebral bodies Microdontia Lymphoma Brain atrophy Neutropenia Azoospermia Reduced bone mineral density Sleep apnea Corneal opacity Exotropia Emphysema Chest pain Multiple cafe-au-lait spots Abnormality of the skeletal system Thoracic kyphosis Arrhythmia B-cell lymphoma Opacification of the corneal stroma Aortic regurgitation Malar flattening Obstructive sleep apnea Skeletal dysplasia Joint laxity Umbilical hernia Limb muscle weakness Otitis media Progressive visual loss Abnormal vertebral morphology Elbow flexion contracture Abnormality of the ulna Proptosis Spina bifida Oligohydramnios Bruising susceptibility Abnormality of the liver Abnormality of the eye Abnormality of cardiovascular system morphology Microcephaly Cataract Cryptorchidism Retrognathia Joint hypermobility Clinodactyly of the 5th finger Cardiac arrest Respiratory failure Disproportionate tall stature Dilated cardiomyopathy Joint hyperflexibility Long face Hip dysplasia Short palpebral fissure Thin skin Coxa valga Retinal detachment Hyperextensible skin Rocker bottom foot Tall stature Cardiorespiratory arrest High myopia Mitral valve prolapse Esotropia Abnormal carotid artery morphology Polyneuropathy Anemia Protuberant abdomen Seizures Hypoplasia of the corpus callosum Abnormality of the hip bone Aplasia/Hypoplasia of the radius Keratoglobus Neoplasm Failure to thrive Ventriculomegaly Depressivity Congenital contracture Hypogonadism Diabetes mellitus Hepatosplenomegaly Small for gestational age Pigmentary retinopathy Epidermal acanthosis Decreased muscle mass Abnormal electroretinogram Acanthosis nigricans Deeply set eye Sensorineural hearing impairment Cleft palate Ptosis Wide nasal bridge Talipes equinovarus Clinodactyly Camptodactyly Narrow face Joint stiffness Blepharophimosis Hypermetropia Abnormality of the foot Triangular face Abnormality of retinal pigmentation Joint contracture of the hand Increased body weight Abnormality of the sternum Hydrocephalus J-shaped sella turcica Myocardial fibrosis Peripheral edema High pitched voice Microphthalmia Abnormal renal morphology Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Central apnea Abnormal aortic morphology Protrusio acetabuli Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Overjet Abnormal aortic valve morphology Aplasia/Hypoplasia of the iris Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Cloverleaf skull Abnormality of the uterus Aplastic anemia Abnormality of the upper limb Arteriovenous malformation Premature osteoarthritis Abnormal eyelid morphology Low-grade fever Complete duplication of thumb phalanx Hearing abnormality Deficient excision of UV-induced pyrimidine dimers in DNA Abnormality of metabolism/homeostasis Microspherophakia Increased axial length of the globe Blindness Low-set ears Femoral bowing Tibial bowing Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Anemic pallor Partial duplication of thumb phalanx Prolonged G2 phase of cell cycle Almond-shaped palpebral fissure Endocarditis Tricuspid valve prolapse Abnormality of the clavicle Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Anisometropia Decreased fertility in males Clubbing of toes Megalencephaly Chromosome breakage External ear malformation Hypopnea Finger syndactyly Choanal atresia Pancytopenia Metaphyseal chondrodysplasia Sloping forehead Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Fibular bowing Vertigo Anal atresia Facial asymmetry Toe syndactyly Leukemia Aganglionic megacolon Abnormal cardiac septum morphology Aplasia/Hypoplasia of the mandible Postnatal growth retardation Irritability Spontaneous pneumothorax Carcinoma Atrial septal defect Weight loss Upslanted palpebral fissure Abnormal heart morphology Patent ductus arteriosus Hypospadias Cystic medial necrosis Abnormality of the genital system Recurrent urinary tract infections Irregular hyperpigmentation Triphalangeal thumb Osteoporosis Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Myelodysplasia Telangiectasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Flat cornea Short thumb Cafe-au-lait spot Prominent forehead Hyperactivity Thoracic aortic aneurysm Decreased pulmonary function Peripheral axonal neuropathy Apnea Decreased liver function Exercise intolerance Ventricular tachycardia Respiratory insufficiency due to muscle weakness Downslanted palpebral fissures Peripheral neuropathy Spondylolisthesis Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Moderate myopia High, narrow palate Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Cone/cone-rod dystrophy Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Atypical scarring of skin Soft skin Left ventricular hypertrophy Palpitations Ventricular arrhythmia Elevated serum creatine phosphokinase Subarachnoid hemorrhage Reduced visual acuity Megalocornea Dilatation of the cerebral artery Striae distensae Proximal muscle weakness Reduced subcutaneous adipose tissue Open bite Large for gestational age Arachnoid cyst Mental deterioration Epiphora Meningocele Distal amyotrophy Atrial fibrillation Genu recurvatum Hammertoe Ectopia lentis Distal sensory impairment Narrow palate Spontaneous abortion Psychosis Amblyopia Decreased body weight Mitral regurgitation Ventricular hypertrophy Abnormality of the cardiovascular system Dental malocclusion EMG: myopathic abnormalities Pulmonary edema Hypoplasia of the iris Pulmonary artery dilatation Blue sclerae Increased cerebral lipofuscin Decreased fetal movement Glycogen accumulation in muscle fiber lysosomes Hypoplasia of the musculature Gastrointestinal hemorrhage Sepsis Abnormal bleeding Intellectual disability, severe Generalized muscle weakness Hypertropia Midface retrusion Microcornea Single transverse palmar crease Macular hypopigmentation Severe global developmental delay Micromelia Generalized-onset seizure Ascending tubular aorta aneurysm Pulmonary arterial hypertension Unsteady gait Rhizomelia Talipes Incisional hernia Wide anterior fontanel Overbite Thoracic hypoplasia Mesomelia Suicidal ideation Left ventricular systolic dysfunction Atrophic scars Wolff-Parkinson-White syndrome Low back pain Homocystinuria Pneumothorax Skeletal muscle atrophy Neurodevelopmental delay Generalized amyotrophy Intracranial hemorrhage Inferior oblique muscle overaction Medial rotation of the medial malleolus Abnormal retinal morphology Hypokinesia Abnormality of the gastrointestinal tract Reduced ejection fraction Corneal dystrophy Recurrent pneumonia Myofibrillar myopathy Skeletal myopathy Autophagic vacuoles Muscle flaccidity Mitral annular calcification Torticollis Retinal pigment epithelial mottling Exercise-induced muscle cramps Spina bifida occulta Impaired myocardial contractility Ventricular preexcitation Joint dislocation Hyperbilirubinemia Myocardial necrosis Neonatal hypotonia Exertional dyspnea Hyperreflexia Gliosis Glomerulosclerosis Encephalitis Chronic kidney disease Atherosclerosis Lymphopenia Abnormality of epiphysis morphology Heterotopia Fine hair Intellectual disability, profound Nephrotic syndrome Decreased testicular size Waddling gait Premature birth Migraine Abnormal cerebellum morphology Glomerulonephritis Dementia Pericardial constriction Cerebellar atrophy Vomiting Immunodeficiency Recurrent infections Pneumonia Thin upper lip vermilion Nephropathy Proteinuria Developmental regression Autoimmunity Malabsorption Stage 5 chronic kidney disease Bulbous nose Epiphyseal dysplasia Nephritis Hypoplastic frontal sinuses Cellular immunodeficiency Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Melanocytic nevus Abnormality of the vasculature Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis Combined immunodeficiency Hypermelanotic macule Steatorrhea Glomerulopathy Transient ischemic attack Subvalvular aortic stenosis Ovoid vertebral bodies Disproportionate short-trunk short stature Lymphoproliferative disorder Villous atrophy Cerebral ischemia Precocious atherosclerosis Constrictive pericarditis Absent frontal sinuses Lateral displacement of the femoral head Vertebral segmentation defect Congenital finger flexion contractures Round ear Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Ulnar deviation of finger Tarsal synostosis Long fingers Limited wrist extension Abnormality of eye movement Areflexia Alopecia Narrow mouth Protruding ear Arthrogryposis multiplex congenita Ophthalmoplegia Webbed neck Macular dystrophy Wide intermamillary distance Bilateral single transverse palmar creases Adducted thumb Bilateral ptosis Mask-like facies Bilateral talipes equinovarus Absent phalangeal crease Amyoplasia Fibroma Pulmonary fibrosis Type II diabetes mellitus Pointed chin Reduced tendon reflexes Cachexia Premature ovarian insufficiency Nephroblastoma Slender long bone Growth hormone deficiency Pericarditis Insulin-resistant diabetes mellitus Scaphocephaly Microglossia Prominent superficial veins Weak voice Cyanosis Decreased antibody level in blood Decreased facial expression Intellectual disability, moderate Firm muscles Exophoria Internally rotated shoulders Feeding difficulties Dysarthria Abnormality of the nervous system Broad forehead Nevus Delayed puberty Infertility Cirrhosis Hypodontia Ascites Abdominal distention Nephrosclerosis Short nose Nystagmus Myelopathy Heparan sulfate excretion in urine Mitral valve calcification Hip subluxation Abnormality of the gingiva Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Abnormal cornea morphology Nasal obstruction Delayed menarche Communicating hydrocephalus Spinal cord compression Diastasis recti Hypoplastic iliac wing Dysostosis multiplex Tracheal stenosis Hydrocele testis Sparse axillary hair Shield chest Broad ribs Sparse pubic hair Dilation of lateral ventricles Cor pulmonale Flared iliac wings Sagittal craniosynostosis Hernia of the abdominal wall Urinary glycosaminoglycan excretion Papilledema Abnormality of the skull base Ataxia Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Posterior scalloping of vertebral bodies Cervical instability Abnormality of mucopolysaccharide metabolism Frontal hirsutism Optic nerve compression Progressive flexion contractures Thickened ribs Dermatan sulfate excretion in urine Abnormality of the acetabulum Limited shoulder movement Abnormality of lysosomal metabolism Abnormality of the tonsils Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Chronic sinusitis Blepharitis Dyspnea Long palm Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Conductive hearing impairment Arthralgia Coarse facial features Hyperkeratosis Abdominal pain Recurrent respiratory infections Constipation Splenomegaly Intellectual disability, mild Anteverted nares Abnormality of the zygomatic bone Median cleft lip and palate Synophrys Prematurely aged appearance Macrotia Specific learning disability Myocardial infarction Coxa vara Pyloric stenosis Telangiectasia of the skin Pulmonary artery stenosis Femoral hernia Hiatus hernia Esophagitis Myocarditis Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Arterial stenosis Carious teeth Genu valgum Peripheral visual field loss Abnormality of dental morphology Widely spaced teeth Abnormality of the metacarpal bones Arnold-Chiari malformation Increased intracranial pressure Easy fatigability Chronic otitis media Toe walking Knee flexion contracture Multiple joint contractures Abnormal heart valve morphology Arthropathy Hyperactive deep tendon reflexes Spinal canal stenosis Rhinitis Abnormality of dental enamel Generalized hirsutism Lower limb muscle weakness Asthma Retinal degeneration Hirsutism Wide nose Thick vermilion border Sleep disturbance Macroglossia Limitation of joint mobility Congenital hip dislocation Abnormality of the ribs Recurrent otitis media Lower limb spasticity Thickened skin Aortic valve stenosis Short ribs Enlarged cerebellum



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