Strabismus, and Gastrointestinal hemorrhage

Diseases related with Strabismus and Gastrointestinal hemorrhage

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


Top matches:

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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 ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Low 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

Top 5 symptoms//phenotypes associated to Strabismus and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Portal hypertension Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Strabismus and Gastrointestinal hemorrhage. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Anemia Hypertension Intrauterine growth retardation Dilatation Failure to thrive Ataxia Scoliosis Hepatomegaly Hypopigmentation of the skin Osteopenia Short stature Leukopenia Abnormal bleeding Neoplasm Immunodeficiency Splenomegaly Hepatosplenomegaly Muscular hypotonia Myopia Cataract Leukemia Abnormality of the kidney Spasticity Edema Cerebellar hypoplasia Tremor Atrial septal defect Osteoporosis Elevated hepatic transaminase Jaundice Abnormality of the liver Sparse hair Retinopathy Gait disturbance Prominent forehead Congestive heart failure Respiratory distress Telangiectasia Depressed nasal bridge Cryptorchidism Esophageal varix Heart murmur Pancytopenia Nystagmus Decreased fetal movement Cholestasis Hypertonia Bruising susceptibility Neutropenia Recurrent infections Renal insufficiency Blindness Carcinoma Alopecia Malabsorption Delayed skeletal maturation Epistaxis Abnormality of the skeletal system Microcephaly

Rare Symptoms - Less than 30% cases


Lymphoma Abnormal facial shape Brachycephaly Hypertriglyceridemia Brain atrophy Hyperpigmentation of the skin Aplastic anemia Generalized hyperpigmentation Lymphadenopathy Fair hair Developmental regression Macrotia Rigidity Areflexia Hepatic failure Chronic hepatic failure Encephalocele Multicystic kidney dysplasia Oculomotor apraxia Cholestatic liver disease Congenital hepatic fibrosis Abnormal pattern of respiration Multiple small medullary renal cysts Hypocalcemia Intrahepatic biliary atresia Abnormality of the ribs Diarrhea Fever Hepatocellular carcinoma Exocrine pancreatic insufficiency Abnormal form of the vertebral bodies Hodgkin lymphoma Hyporeflexia Recurrent respiratory infections Hemophagocytosis Abnormality of the hip bone Hypersplenism Blue sclerae Coarctation of aorta Tetralogy of Fallot Short distal phalanx of finger Oligohydramnios Round face Pulmonic stenosis Abnormal cardiac septum morphology EEG abnormality Hyperbilirubinemia Sepsis Spina bifida occulta Ventriculomegaly Ventricular septal defect Cognitive impairment Subcutaneous hemorrhage Generalized joint laxity Keratoconus Corneal dystrophy Esotropia Microcornea Abnormal leukocyte morphology Respiratory insufficiency Intracranial hemorrhage Abnormality of coagulation Flexion contracture Squamous cell carcinoma Sparse eyelashes Motor delay Epicanthus Talipes equinovarus Abnormality of skin pigmentation Joint hypermobility Hearing impairment Kyphosis Pulmonary artery stenosis Joint laxity Hyperlordosis Pectus carinatum Pulmonary arterial hypertension Joint hyperflexibility Talipes Generalized hypopigmentation of hair Ascites Downslanted palpebral fissures Anteverted nares Abnormality of the eye Apnea Iris hypopigmentation Amblyopia Dystonia Dyspnea Cerebral calcification Inguinal hernia Mental deterioration Postnatal growth retardation Hydrocephalus Frontal bossing Anorexia Abdominal pain Albinism Small for gestational age Low-set ears Hypopigmentation of hair Nail dystrophy Pulmonary fibrosis Nail dysplasia Basal cell carcinoma Restrictive ventilatory defect Abnormality of movement Hypertelorism Feeding difficulties in infancy Decreased pulmonary function Intestinal bleeding Melanocytic nevus Abnormality of the vasculature Cardiomyopathy Oral leukoplakia Stage 5 chronic kidney disease Partial albinism Abnormality of eye movement Gingival bleeding Bone marrow hypocellularity Prominent nasal bridge Thin skin Hematochezia Abnormality of extrapyramidal motor function Photophobia Hemiparesis Optic atrophy Fatigue Thickened skin Hypoglycemia Dementia Pallor Polyhydramnios Irritability Arrhythmia Encephalopathy Cough Vomiting Dysphagia Umbilical hernia Myoclonus Gastroesophageal reflux Iris coloboma Corneal opacity Elbow flexion contracture Athetosis Akinesia Clubbing Hyponatremia Ectropion Abnormality of the thorax Bilateral ptosis Cholelithiasis Poor suck Hyperammonemia Purpura Osteolysis Knee flexion contracture Cardiac arrest Lethargy Aspiration Bone pain Progressive microcephaly Hydrops fetalis Decreased body weight Progressive neurologic deterioration Reduced number of intrahepatic bile ducts Cyanosis Abnormality of the skin Syncope Generalized myoclonic seizures Pulmonary hypoplasia Nausea Ophthalmoplegia Butterfly vertebral arch Butterfly vertebrae Rectourethral fistula Specific learning disability Anal atresia Flat face Hypodontia Triangular face Vesicoureteral reflux Prominent nose Pigmentary retinopathy Pruritus Nephrotic syndrome Renal hypoplasia Weight loss Renal dysplasia Exotropia Lymphedema Delayed puberty Broad forehead Pointed chin Astigmatism Visual loss Epidermal acanthosis Clinodactyly of the 5th finger Upslanted palpebral fissure Nevus Acidosis Coarse facial features Short philtrum Deeply set eye Conductive hearing impairment Protruding ear Craniosynostosis Scarring Stroke Abnormal vertebral morphology Hemivertebrae Unicoronal synostosis Opisthotonus Thyroid carcinoma Abnormal pupil morphology Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Arterial stenosis Abnormal anterior chamber morphology Intrahepatic cholestasis Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Renal artery stenosis Peripheral arterial stenosis Coronal craniosynostosis Finger clinodactyly Chorioretinal atrophy Hypercholesterolemia Renal hypoplasia/aplasia Glomerulosclerosis Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Long nose Dilatation of the cerebral artery Prolonged neonatal jaundice Telangiectasia of the skin Renal tubular acidosis Abnormality of the ureter Posterior embryotoxon Hyperkeratosis Menorrhagia Bulbar signs Petechiae Femoral bowing Tracheal stenosis Heart block Upper limb undergrowth Overweight Thrombocytosis Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Tibial bowing Limited elbow extension Mesomelia Abnormality of the pancreas Short thorax Cone-shaped epiphysis Metaphyseal widening Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Short ribs Lymphopenia Sparse and thin eyebrow B-cell lymphoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of retinal pigmentation Hypoplastic anemia 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 Abnormality of the distal phalanx of finger Abnormal T cell morphology Abnormally ossified vertebrae Aplasia/Hypoplasia affecting the eye Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Gingival overgrowth Rhizomelia Interstitial pulmonary abnormality Slow saccadic eye movements Abducens palsy Axial dystonia Eclabion Histiocytosis Generalized osteosclerosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypoxemia Abnormality of the larynx Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Nonimmune hydrops fetalis Trismus Giant cell hepatitis Intellectual disability, mild Hypomagnesemia Fetal akinesia sequence Aspiration pneumonia Increased serum ferritin Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Exertional dyspnea Hypokinesia Spontaneous hematomas Laryngeal stridor Abnormality of epiphysis morphology Hypotrichosis Bronchiectasis Aganglionic megacolon Bowing of the long bones Abnormality of the metaphysis Depressed nasal ridge Fine hair Lumbar hyperlordosis Convex nasal ridge Decreased antibody level in blood Postural instability Small hand Short palm Micromelia Narrow chest Arthrogryposis multiplex congenita Orthopnea Slowed horizontal saccades CSF pleocytosis Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Abnormal platelet aggregation Cardiac valve calcification EEG with temporal sharp waves Low-set, posteriorly rotated ears Wide nasal bridge Short neck Constipation Pneumonia Severe short stature Skeletal dysplasia Clinodactyly Premature loss of teeth Abnormal lung morphology Muscle weakness Pes planus Kyphoscoliosis Glaucoma Pectus excavatum Hernia Abnormality of metabolism/homeostasis Myopathy Leukodystrophy Leukoencephalopathy Increased susceptibility to fractures Hemiplegia Short femoral neck Pathologic fracture Recurrent systemic pyogenic infections Febrile seizures Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Calcinosis Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Progressive peripheral neuropathy Morphological abnormality of the pyramidal tract Spinocerebellar tract degeneration White hair Generalized hypopigmentation Neonatal hypotonia Recurrent fractures Gingivitis Joint contracture of the hand Atrophic scars Disproportionate tall stature Aortic aneurysm Menometrorrhagia Hyperextensible skin Freckles in sun-exposed areas Aortic regurgitation Torticollis Dysarthria Joint dislocation Increased body weight Recurrent pneumonia Spina bifida Insulin resistance Dolichocephaly Tall stature Dental crowding High myopia Mitral valve prolapse Overgrowth Abnormal pyramidal sign Generalized muscle weakness Single transverse palmar crease Polyneuropathy Retinal detachment Abnormality of the cerebral white matter Unsteady gait Arachnodactyly Genu valgum Periodontitis Metaphyseal sclerosis Slender finger Abnormality of neuronal migration Abnormality of the nervous system Intellectual disability, moderate Aplasia/Hypoplasia of the cerebellar vermis Wide mouth Abnormality of the hypothalamus-pituitary axis Coloboma Neoplasm of the liver Optic nerve coloboma Abnormality of abdomen morphology Biparietal narrowing Occipital encephalocele Nephronophthisis Molar tooth sign on MRI Aplasia/Hypoplasia of the cerebellum Polydactyly Chorioretinal coloboma Chronic kidney disease Aplasia/Hypoplasia of the corpus callosum Hepatic fibrosis Oral cleft Cerebellar vermis hypoplasia Apraxia Postaxial hand polydactyly Intestinal malrotation Long face Renal cyst Highly arched eyebrow Nephropathy Peripheral neuropathy Skeletal muscle atrophy Resting tremor Peripheral demyelination Sensory axonal neuropathy Cerebral hemorrhage Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Retinal exudate Foot dorsiflexor weakness Skin ulcer Retinal telangiectasia Exudative retinopathy Cutaneous photosensitivity Spastic hemiparesis Bradykinesia Parkinsonism Agenesis of corpus callosum Neurodegeneration Sensory neuropathy Falls Peripheral axonal neuropathy Ptosis Paresthesia Paraplegia Spastic paraplegia Hyperreflexia Macrocephaly Difficulty walking Reduced visual acuity Intellectual disability, severe Cerebellar atrophy Squamous cell carcinoma of the skin Impaired platelet aggregation Micrognathia Abnormality of the dentition Conjunctivitis Horseshoe kidney Truncal ataxia Sparse scalp hair Decreased testicular size Gliosis Abnormality of dental enamel Carious teeth Muscular hypotonia of the trunk Acanthosis nigricans Cerebral cortical atrophy Hyperhidrosis Hypospadias Melanoma Abnormal intestine morphology Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Abnormality of the hair Anosmia Periventricular leukomalacia Excessive wrinkled skin Anal mucosal leukoplakia Pterygium of nails Split nail Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Testicular atrophy Dermal atrophy Ridged nail Chromosome breakage Blepharitis Retinal dystrophy Long eyelashes Acute myeloid leukemia Myeloid leukemia Increased antibody level in blood Premature graying of hair Flared metaphysis Epiphora Neonatal respiratory distress Myelodysplasia Pterygium Aplasia cutis congenita of scalp Porencephalic cyst Aortic root aneurysm Arterial rupture Abnormality of cardiovascular system morphology Microphthalmia Syndactyly Hypoplasia of the corpus callosum Severe vision loss Abnormality of visual evoked potentials Brachydactyly Ocular albinism Cleft palate Abnormality of the optic nerve Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Moderate myopia Abnormal heart morphology Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Dural ectasia Keloids Thoracic kyphoscoliosis Lens luxation Ulcerative colitis Bladder diverticulum Abnormal thrombocyte morphology Aortic dissection Atypical scarring of skin Soft skin Patent ductus arteriosus Freckling Abnormality of the upper limb Supernumerary nipple Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Hypoplastic left heart Cutis marmorata Colitis Abnormality of the metacarpal bones Bicuspid aortic valve Meningitis Aortic valve stenosis Pachygyria Split hand Small nail Inflammation of the large intestine Premature birth Polymicrogyria Cleft upper lip Toe syndactyly Prolonged bleeding time Finger syndactyly Pulmonary lymphoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Esotropia, related diseases and genetic alterations Lymphoma and Eczema, related diseases and genetic alterations Depressed nasal bridge and Talipes, related diseases and genetic alterations Peripheral neuropathy and Pancytopenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more