Carcinoma, and Hypermetropia

Diseases related with Carcinoma and Hypermetropia

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


Top matches:

High match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

High 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

High match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

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Other less relevant matches:

High match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match UVEAL MELANOMA


Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

UVEAL MELANOMA Is also known as choroidal melanoma|iris melanoma

Related symptoms:

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


SOURCES: ORPHANET OMIM MENDELIAN

More info about UVEAL MELANOMA

Medium 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

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN 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

Medium 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 OCULOCUTANEOUS ALBINISM TYPE 6


Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).

OCULOCUTANEOUS ALBINISM TYPE 6 Is also known as oca6

Related symptoms:

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCUTANEOUS ALBINISM TYPE 6

Top 5 symptoms//phenotypes associated to Carcinoma and Hypermetropia

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Carcinoma and Hypermetropia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Growth delay Cataract Myopia Hearing impairment Abnormality of the skeletal system Macrotia Atrial septal defect Micrognathia Downslanted palpebral fissures Nystagmus Global developmental delay Macrocephaly Hypopigmentation of the skin Joint hypermobility Depressed nasal bridge Hypertension Cryptorchidism Leukemia Hepatomegaly Abnormality of the kidney High palate Abnormal vertebral morphology Nevus Seizures Lymphedema Prominent forehead Overgrowth Proptosis Visual loss Hemangioma Abnormality of skin pigmentation Lymphoma Papilloma Decreased antibody level in blood Melanoma Clinodactyly of the 5th finger Renal insufficiency Heart murmur Recurrent infections Abnormality of cardiovascular system morphology Hydrocephalus Severe short stature Low-set ears Intellectual disability, moderate Ptosis Delayed skeletal maturation Dilatation Cognitive impairment Immunodeficiency Cardiomyopathy Anteverted nares Delayed puberty Epicanthus Visual impairment Cafe-au-lait spot Abnormal form of the vertebral bodies Hypertrophic cardiomyopathy Hip dislocation Pain Multiple cafe-au-lait spots Kyphosis Congestive heart failure Hypodontia Arteriovenous malformation Dolichocephaly Joint laxity Hypogonadism Conductive hearing impairment Coarse facial features Abnormal heart morphology Basal cell carcinoma Ventriculomegaly Ventricular septal defect Delayed speech and language development Generalized hypotonia Melanocytic nevus Intellectual disability, mild Neoplasm of the skin Lymphopenia Pointed chin Sparse hair Headache

Rare Symptoms - Less than 30% cases


Thin bony cortex Insulin resistance Cellular immunodeficiency Decreased body weight Thin nail Joint stiffness Hyperinsulinemia Lack of skin elasticity Hypertriglyceridemia B-cell lymphoma Motor delay Thrombocytosis Growth hormone deficiency Stroke Aplastic anemia Large face Abnormality of chromosome stability Skeletal muscle atrophy Lipodystrophy Osteoporosis Narrow mouth Short nose Intracranial hemorrhage Carious teeth Osteopenia Fragile nails Relative macrocephaly Hypercholesterolemia Renal cell carcinoma Acanthosis nigricans Hypergonadotropic hypogonadism Hypoplastic anemia Abnormality of the dentition Abnormality of dental enamel Myopathy Lipoma Polymicrogyria Subcutaneous nodule Telangiectasia Cranial nerve paralysis Hypopigmented skin patches Goiter Palmoplantar hyperkeratosis Multiple lipomas Acute myeloid leukemia Hamartoma Ovarian neoplasm Papilledema Ataxia Meningioma Abnormality of the uterus Long penis Enlarged polycystic ovaries Generalized hyperkeratosis Neoplasm of the central nervous system Fever Finger syndactyly Facial asymmetry Thickened skin Irregular hyperpigmentation Hypothyroidism Abnormality of the vasculature Pectus excavatum Megalencephaly Hyperkeratosis Kyphoscoliosis Irritability Postnatal growth retardation Pulmonic stenosis Astigmatism Macroglossia Epidermal acanthosis Abnormality of the hair Hodgkin lymphoma Generalized hyperpigmentation Abnormality of the testis Hypoplasia of the ulna Transitional cell carcinoma of the bladder Enlarged cerebellum Abnormal fundus morphology Intrauterine growth retardation Upslanted palpebral fissure Craniosynostosis Abnormality of the liver Anal atresia Round face Tetralogy of Fallot Exotropia Renal hypoplasia/aplasia Exocrine pancreatic insufficiency Keratoconus Metaphyseal widening Jaundice Diarrhea Neutropenia Reduced number of teeth Redundant skin Short neck Aganglionic megacolon Respiratory insufficiency Narrow chest Hyperreflexia Pes planus Hamartomatous polyposis Thrombocytopenia Squamous cell carcinoma Apraxia Sloping forehead Renal agenesis Portal hypertension Joint hyperflexibility Abnormality of retinal pigmentation Anemia Muscular hypotonia Vesicoureteral reflux Sparse and thin eyebrow Splenomegaly Heterotopia Constipation Hypotrichosis Narrow palate Abnormality of the ribs Hypoplasia of dental enamel Low-set, posteriorly rotated ears Accelerated skeletal maturation Abnormal dermatoglyphics Abnormal cardiac septum morphology Patent ductus arteriosus Pectus carinatum Brachycephaly Skeletal dysplasia Arthrogryposis multiplex congenita Convex nasal ridge High, narrow palate Malabsorption Neuroblastoma Gastrointestinal hemorrhage Postural instability Prolonged neonatal jaundice Optic atrophy Cutis laxa Alopecia Dysdiadochokinesis Prolactin excess Otitis media Scaphocephaly Hashimoto thyroiditis Cutis marmorata Thyroiditis Cystic hygroma Macule Hyperthyroidism Abnormality of the thyroid gland Clumsiness Small nail Incoordination Hand polydactyly Cellulitis Macrocytic anemia Skin tags Pseudopapilledema Thyroid adenoma Varicocele Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Progressive macrocephaly Mucosal telangiectasiae Ovarian carcinoma Acrokeratosis Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Intestinal polyp Angioid streaks of the fundus Hydrocele testis Breast carcinoma Genu valgum Furrowed tongue Respiratory tract infection Astrocytoma Ovarian cyst Intestinal polyposis Bone cyst Aggressive behavior Abnormality of the penis Cavernous hemangioma Neonatal hypotonia Fibroma Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Tall stature Broad thumb Narrow face Spina bifida occulta Nephrotic syndrome Renal hypoplasia Cholestasis Renal dysplasia Partial agenesis of the corpus callosum Hemivertebrae Multicystic kidney dysplasia Finger clinodactyly Corneal dystrophy Pigmentary retinopathy Agenesis of permanent teeth Glomerulosclerosis Large hands Malnutrition Vertebral segmentation defect Chorioretinal atrophy Long nose Telangiectasia of the skin Renal tubular acidosis Coarctation of aorta Specific learning disability Posterior embryotoxon Broad forehead Deeply set eye Elevated hepatic transaminase Protruding ear Enlarged cisterna magna High anterior hairline Scarring Retinopathy Short philtrum Pruritus Prominent nose Poor coordination Stage 5 chronic kidney disease Acute lymphoblastic leukemia Cirrhosis Hepatic failure Flat face Short distal phalanx of finger Microcornea Triangular face Abnormality of the ureter Hepatocellular carcinoma Increased intracranial pressure Autism Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Precocious puberty Muscle weakness Brachydactyly Tremor Proximal muscle weakness Chronic hepatic failure Papule Nausea and vomiting Palmoplantar keratoderma Hypoplasia of the maxilla Abnormal cerebellum morphology Intention tremor Chronic diarrhea Gynecomastia Drooling Intrahepatic biliary atresia Multiple small medullary renal cysts Dilatation of the cerebral artery Peripheral pulmonary artery stenosis Nephroblastoma Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Peripheral arterial stenosis Cholestatic liver disease Thyroid carcinoma Abnormal pupil morphology Fat malabsorption Renal artery stenosis Hypopigmentation of the fundus Arterial stenosis Butterfly vertebrae Abnormal anterior chamber morphology Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Ductal carcinoma in situ Behavioral abnormality Merkel cell skin cancer Myeloid leukemia Abnormality of the urinary system Myelodysplasia Triphalangeal thumb Tracheoesophageal fistula Glucose intolerance Ectopic kidney Hydroureter Absent thumb Abnormality of blood and blood-forming tissues Reduced bone mineral density Absent radius Aplasia/Hypoplasia of the radius External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology Abnormality of the ulna Abnormality of the upper limb Abnormality of vision Azoospermia Bicornuate uterus Pancytopenia Umbilical hernia Abnormality of the eye Small for gestational age Toe syndactyly Abnormality of the foot Vertigo Bruising susceptibility Oligohydramnios Short palpebral fissure Leukopenia Choanal atresia Abnormality of the genital system Recurrent urinary tract infections Short thumb Spina bifida Bone marrow hypocellularity Horseshoe kidney Type I diabetes mellitus Abnormality of the thumb Abnormality of femur morphology Diabetes mellitus Reduced visual acuity Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Photophobia Almond-shaped palpebral fissure Abnormal bleeding Albinism Severe vision loss Hypoplasia of the fovea Generalized hypopigmentation Aplasia/Hypoplasia of the macula Abnormal iris pigmentation Abnormal foveal morphology on macular OCT Abnormal carotid artery morphology Compensated hypothyroidism Acute monocytic leukemia Duodenal stenosis Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duplicated collecting system Absent testis Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Weight loss Hypospadias Multiple trichilemmomata Spinal canal stenosis Hyperostosis Diabetes insipidus Decreased muscle mass Hallux valgus Disproportionate tall stature Pericardial effusion Neurofibromas Pulmonary embolism Abnormal lung lobation Cachexia Neoplasm of the lung Exostoses Capillary hemangioma Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Deep venous thrombosis Chorioretinal coloboma Growth abnormality Lower limb asymmetry Renal cyst Lobular carcinoma in situ Mandibular prognathia Syndactyly Abdominal pain Glaucoma Acidosis Confusion Long face Abdominal distention Abnormality of the metacarpal bones Sudden cardiac death Gliosis High myopia Open mouth Sinusitis Abnormality of the nail Generalized hirsutism Venous thrombosis Varicose veins Abnormality of the neck Microphthalmia Neoplasm of the thymus Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Central heterochromia Macrodactyly Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Microcephaly Cleft palate Fatigue Respiratory distress Sirenomelia Portal vein thrombosis Hemihypertrophy Vascular skin abnormality Anisocytosis Arterial thrombosis Buphthalmos Myofibrillar myopathy Visceral angiomatosis Thick nasal alae Asymmetric growth Asymmetry of the thorax Thrombophlebitis Calvarial hyperostosis Venous malformation Epibulbar dermoid Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Testicular neoplasm Lymphangioma Epidermal nevus Metatarsus valgus Hepatosplenomegaly Metamorphopsia Long foot Small hand Prolonged QT interval Exertional dyspnea Lipoatrophy Scleroderma Thin ribs Keratoconjunctivitis sicca Hypoplastic nipples Short clavicles High pitched voice Alopecia of scalp Abnormal EKG Absent eyelashes Transient ischemic attack Short palm Down-sloping shoulders Hyperphosphatemia Ovoid vertebral bodies Premature graying of hair Multiple joint contractures Prominent superficial veins Coxa valga Dental crowding Hypohidrosis Depressed nasal ridge Aortic valve stenosis Aspiration Increased bone mineral density Fine hair Hypogonadotrophic hypogonadism Aminoaciduria Abnormality of the thorax Osteolysis Atherosclerosis Hyperlipidemia Blue sclerae Lumbar hyperlordosis Dermal atrophy Nasal speech Premature ovarian insufficiency Osteolytic defects of the phalanges of the hand Angina pectoris Abnormality of the metaphysis Carotid artery stenosis Prominent scalp veins Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Craniofacial disproportion Bilateral coxa valga Narrow nasal tip Absence of pubertal development Mitral valve calcification Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Feeding difficulties Dysarthria Dysphagia Bird-like facies Parietal bossing Micromelia Arteriosclerosis Generalized osteoporosis Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Enlarged joints Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Narrow nasal ridge Widely patent fontanelles and sutures Aplastic clavicle Hip pain Absence of subcutaneous fat Premature coronary artery atherosclerosis Decreased testosterone in males Sinus tachycardia Corneal arcus Intermittent claudication Left ventricular hypertrophy Broad-based gait Edema Neonatal short-limb short stature Abnormal diaphysis morphology Mucopolysacchariduria Normocytic anemia Hypersplenism Mesomelia Spinal dysraphism Congenital hypoplastic anemia Abnormal bone ossification Bronchiolitis Abnormally ossified vertebrae Short thorax Abnormal T cell morphology Abnormality of the distal phalanx of finger Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Diaphyseal thickening Femoral bowing Sparse facial hair Fair hair Hypoplasia of the odontoid process Esophageal atresia Distal arthrogryposis Metaphyseal dysplasia High hypermetropia Overweight Upper limb undergrowth Heart block Tracheal stenosis Metaphyseal cupping Generalized joint laxity Abnormality of the hip bone Tibial bowing Abnormality of the pancreas Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Limited elbow extension Impaired lymphocyte transformation with phytohemagglutinin Severe T-cell immunodeficiency Thin skin Delayed eruption of teeth Microtia Rhizomelia Dilated cardiomyopathy Abnormality of epiphysis morphology Bronchiectasis Infertility Thin vermilion border Hepatic steatosis Chest pain Short ribs Limitation of joint mobility Nail dysplasia Cyanosis Abnormality of the cardiovascular system Cardiomegaly Myocardial infarction Bowing of the long bones Osteoarthritis Gingival overgrowth Dyspnea Biconvex vertebral bodies Genu varum Abnormality of humoral immunity Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma Sensorineural hearing impairment Cone-shaped epiphysis Flexion contracture Abnormality of pelvic girdle bone morphology Hypocalcemia Disproportionate short-limb short stature Sacral dimple Malar flattening Midface retrusion Dementia Reduced tendon reflexes Abnormal palate morphology Sparse eyelashes Talipes equinovarus Hyperlordosis Advanced eruption of teeth Ulnar deviation of the wrist Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Body odor Teratoma Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Deep plantar creases Bronchomalacia Multifocal atrial tachycardia Fasting hypoglycemia Central apnea Hyperplasia of the maxilla Redundant neck skin Labial hypoplasia Deep palmar crease Asymmetric septal hypertrophy Abnormal mitral valve morphology Broad philtrum Hypoplasia of teeth Fetal distress Concave nail Pneumothorax Hyperextensibility of the finger joints Rhabdomyosarcoma Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Embryonal rhabdomyosarcoma Neonatal sepsis Large forehead Subretinal fluid Cutaneous melanoma Mydriasis Anal stenosis Oxycephaly Zonular cataract Uveal melanoma Photopsia Inferior lens subluxation Ocular pain Choroidal melanoma Iris melanoma Ciliary body melanoma Abnormal visual accommodation Choroidal nevus Cavum septum pellucidum Clinodactyly Areflexia Vitreous hemorrhage Inflammatory abnormality of the eye Choroid plexus papilloma Alveolar rhabdomyosarcoma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Overbite Myofiber disarray Vitreomacular adhesion Tendon rupture Lymphangiectasis Abnormality of refraction Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Increased corneal curvature Abnormal glucose tolerance Retinal detachment Periventricular leukomalacia Increased intraocular pressure Verrucae Achilles tendon contracture Long philtrum Webbed neck Hematuria Sleep disturbance Ascites Tetraplegia Sepsis Full cheeks Premature birth Abnormality of the skin Wide nose Hip dysplasia Eczema Mitral valve prolapse Wide nasal bridge Thick lower lip vermilion Atrial fibrillation Long eyelashes Hyperpigmentation of the skin Thick vermilion border Tachycardia Hydrops fetalis Hyperhidrosis Cerebral atrophy EEG abnormality Absent speech Hernia Arrhythmia Inguinal hernia Pes cavus Posteriorly rotated ears Cerebral cortical atrophy Wide mouth Respiratory failure Polyhydramnios Gastroesophageal reflux Pneumonia Hypoglycemia Abnormality of the nervous system Apnea Feeding difficulties in infancy Wide anterior fontanel Hoarse voice Thick upper lip vermilion Soft skin Rhabdomyolysis Ulnar deviation of finger Sacrococcygeal teratoma Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Neonatal hypoglycemia Obstructive sleep apnea Gray matter heterotopias Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Expressive language delay Barrel-shaped chest Progeroid facial appearance Woolly hair Large earlobe Curly hair Reduced subcutaneous adipose tissue Abnormality of the cerebral ventricles Pyloric stenosis Short chin Abnormality of the fingernails Infantile muscular hypotonia Small cell lung carcinoma Arnold-Chiari malformation Laryngomalacia Poor suck Hyperextensible skin Failure to thrive in infancy Neurodevelopmental delay Aortic aneurysm Pleural effusion Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Tricuspid regurgitation Rocker bottom foot Large for gestational age Actinic keratosis



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