Carcinoma, and Hypothyroidism

Diseases related with Carcinoma and Hypothyroidism

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


Top matches:

High match THYROID DYSHORMONOGENESIS 3; TDH3


Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.

THYROID DYSHORMONOGENESIS 3; TDH3 Is also known as thyroid hormonogenesis, genetic defect in, 3|hypothyroidism, congenital, due to dyshormonogenesis, 3

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Pain
  • Hypothyroidism
  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID DYSHORMONOGENESIS 3; TDH3

High match THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC


Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.

THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Is also known as mtc1|fmtc

Related symptoms:

  • Neoplasm
  • Pain
  • Respiratory distress
  • Hypothyroidism
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

High match PENDRED SYNDROME


Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

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Other less relevant matches:

High match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

High match MULTIPLE ENDOCRINE NEOPLASIA TYPE 4


Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Diarrhea
  • Diabetes mellitus
  • Hypothyroidism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4

High match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

High match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

High match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

High 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

High match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Top 5 symptoms//phenotypes associated to Carcinoma and Hypothyroidism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Goiter Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Thyroiditis Abnormality of the kidney Hypertension Diarrhea Thyroid carcinoma Hearing impairment Headache Subcutaneous nodule Hashimoto thyroiditis Abdominal distention Macroglossia Intellectual disability, mild Hamartoma Seizures Intellectual disability, moderate Respiratory insufficiency Generalized hypotonia Respiratory distress Abnormality of the thyroid gland Congestive heart failure Follicular thyroid carcinoma Global developmental delay

Rare Symptoms - Less than 30% cases


Lymphopenia Subcutaneous lipoma Dyspnea Autism Respiratory failure Hyperactivity Thyroid adenoma Renal insufficiency Angiofibromas Renal angiomyolipoma Delayed puberty Anemia Behavioral abnormality Vomiting Hydrocephalus Immunodeficiency Recurrent infections Primary hypothyroidism Abnormal intestine morphology Purpura Chest pain Skin rash Flank pain Papule Cognitive impairment Cataract Prominent supraorbital ridges Mucosal telangiectasiae Overgrowth Joint hypermobility Coarse facial features Midface retrusion Atrial septal defect Edema Cardiomyopathy Macrocephaly Hypertelorism Adenoma sebaceum Attention deficit hyperactivity disorder Fibroma Astrocytoma Skin tags Renal cell carcinoma Nephroblastoma Polycystic kidney dysplasia Cafe-au-lait spot Cardiomegaly Nevus Renal cyst Nausea Abnormality of the cerebral white matter Cough Stroke Abnormality of the endocrine system Arrhythmia Nausea and vomiting Progressive hearing impairment Bradycardia Umbilical hernia Constipation Delayed skeletal maturation Growth delay Hyperparathyroidism Nephropathy Diabetes mellitus Sensorineural hearing impairment Ataxia Papillary thyroid carcinoma Teratoma Neoplasm of the endocrine system Lymphoma Compensated hypothyroidism Congenital hypothyroidism Vertigo Abnormality of femur morphology Dysplastic gangliocytoma of the cerebellum Posteriorly rotated ears Depressivity Fatigue Optic atrophy Acroparesthesia Fever Peripheral neuropathy Lobular carcinoma in situ Multiple trichilemmomata Abnormal common carotid artery morphology Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Trichilemmoma Abdominal pain Abnormal ST segment Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Abnormal thrombosis Pseudopapilledema Increased carotid artery intimal medial thickness Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Hyperhidrosis Heavy proteinuria Intestinal polyp Corneal opacity Supraventricular arrhythmia Miosis Sudden cardiac death Muscle cramps Hematuria Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Stage 5 chronic kidney disease Paresthesia Malabsorption Pruritus Prominent nasal bridge Hyperkeratosis Developmental regression Hypertrophic cardiomyopathy Abnormality of the nervous system Proteinuria Left ventricular septal hypertrophy Anxiety Arthritis Myalgia Arthralgia Mandibular prognathia Tenesmus Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Varicocele Ovarian carcinoma Syncope Hypopigmented skin patches Multiple lipomas Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Breast carcinoma Abnormality of the common coagulation pathway Melanoma Dysesthesia Increased intracranial pressure Cellulitis Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Exotropia Chronic diarrhea Telangiectasia Broad thumb Intention tremor Decreased antibody level in blood Abnormal cerebellum morphology Hypoplasia of the maxilla Abnormal glomerular filtration rate Cystic hygroma Multiple cafe-au-lait spots Angioid streaks of the fundus Intestinal polyposis Abnormality of the penis Colonic diverticula Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Increased glomerular filtration rate Ovarian cyst Acute myeloid leukemia Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hodgkin lymphoma Ovarian neoplasm Hyperthyroidism Tortuosity of conjunctival vessels Urinary incontinence Conjunctival telangiectasia Elevated erythrocyte sedimentation rate Wheezing Renal tubular acidosis Glycosuria Limb pain Abnormal heart valve morphology Restrictive cardiomyopathy Abnormality of temperature regulation Glomerulopathy Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Coronary artery atherosclerosis Abnormality of lipid metabolism Impotence Bundle branch block Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Nephrogenic diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Personality changes Aortic root aneurysm Abnormal EKG Glomerulosclerosis Supraventricular tachycardia Chronic fatigue Myocardial fibrosis Abnormality of the nose Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Microalbuminuria Peripheral arterial stenosis Biventricular hypertrophy Reduced ejection fraction Heat intolerance Large earlobe Xerostomia Oligospermia Abnormality of the gastrointestinal tract Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Corneal crystals Polydipsia Hemiplegia Hypotension Abnormality of glycosphingolipid metabolism ST segment depression Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Functional abnormality of the gastrointestinal tract Lymphedema Gastrointestinal dysmotility Hypohidrosis Impaired renal concentrating ability Anorexia Left ventricular hypertrophy Abnormal lung morphology Unexplained fevers Mitral regurgitation Abnormal aortic valve morphology Palpitations Abnormality of the forehead T-wave inversion Myocardial infarction Abnormality of the renal tubule Atrial fibrillation Thick lower lip vermilion Ventricular hypertrophy Nephrotic syndrome Mitral valve prolapse Abnormality of the cardiovascular system Hyperkeratotic papule Hyperlipidemia Concentric hypertrophic cardiomyopathy Abnormality of the hand Ventricular arrhythmia Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Decreased glomerular filtration rate Vascular tortuosity Abnormal myocardium morphology Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Palmoplantar keratoderma Obstructive lung disease High-frequency hearing impairment Ventricular tachycardia Asymmetric septal hypertrophy Abnormal mitral valve morphology Impaired temperature sensation Periorbital fullness Reduced bone mineral density Ischemic stroke Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Corneal dystrophy Aortic regurgitation Abnormal cornea morphology Gonadoblastoma Polymicrogyria Recurrent respiratory infections Recurrent upper respiratory tract infections Leukoencephalopathy Type I diabetes mellitus Bronchiectasis Inflammatory abnormality of the skin Pulmonary arterial hypertension Eczema Hepatitis Sepsis Hemolytic anemia Autoimmunity Hepatosplenomegaly Osteopenia Pneumonia Patent foramen ovale Thrombocytopenia Abnormality of pancreas physiology Confetti-like hypopigmented macules Cervix cancer Increased glucagon level Pulmonary carcinoid tumor Insulinoma Pituitary null cell adenoma Parathyroid carcinoma Pituitary corticotropic cell adenoma Pituitary growth hormone cell adenoma Increased urinary cortisol level Zollinger-Ellison syndrome Neuroendocrine neoplasm Encephalitis Inflammation of the large intestine Extrahepatic cholestasis Carotid artery dilatation Gliosis Hypopigmentation of the skin Sleep disturbance Retinal detachment Autistic behavior Irritability Glaucoma Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Functional abnormality of the bladder Autoimmune hemolytic anemia Autoimmune neutropenia Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Decrease in T cell count Enterocolitis Immune dysregulation Generalized osteoporosis Villous atrophy Chronic mucocutaneous candidiasis Dilatation of the cerebral artery Pulmonary embolism Autoimmune thrombocytopenia Fasting hyperinsulinemia Testicular neoplasm Focal-onset seizure Tracheal stenosis Dry skin Lethargy Feeding difficulties in infancy Muscular hypotonia Thyroid nodule Enlarged vestibular aqueduct Euthyroid goiter Unilateral deafness Hypoplasia of the cochlea Cochlear malformation Abnormality of the inner ear Metabolic alkalosis Alkalosis Vestibular dysfunction Abnormal vertebral morphology Congenital sensorineural hearing impairment Bilateral sensorineural hearing impairment Neurological speech impairment Abnormality of metabolism/homeostasis Cutaneous amyloidosis Medullary thyroid carcinoma Amyloidosis Squamous cell carcinoma Hoarse voice Aganglionic megacolon Lymphadenopathy Increased T3/T4 ratio Congenital goiter Aspiration Growth hormone deficiency Hyperbilirubinemia Pituitary prolactin cell adenoma Growth hormone excess Thymoma Adrenocortical adenoma Parathyroid hyperplasia Carcinoid tumor Peptic ulcer Primary hyperparathyroidism Parathyroid adenoma Elevated circulating parathyroid hormone level Hyperinsulinemic hypoglycemia Pituitary adenoma Esophagitis Episodic abdominal pain Increased circulating cortisol level Hypercalcemia Stridor Abnormality of the urinary system Type II diabetes mellitus Erythema Thyroid hemiagenesis Thyroid dysgenesis Large posterior fontanelle Thyroid agenesis Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Hypothermia Spondyloepiphyseal dysplasia Myotonia Brain atrophy Specific learning disability Leukemia Nonimmune hydrops fetalis Prune belly Renal cortical cysts Embryonal neoplasm Hepatoblastoma Abdominal wall defect Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Hemihypertrophy Diastasis recti Ganglioneuroma Ketosis Neonatal hypoglycemia Nevus flammeus Enlarged kidney Foot polydactyly Protuberant abdomen Aniridia Prominent metopic ridge Neuroblastoma Broad palm Tibial bowing Abnormality of the ear Prominent occiput Large for gestational age Adrenocortical carcinoma Posterior helix pit Hypercalciuria High palate Proximal muscle weakness Narrow mouth Pectus excavatum Kyphosis Myopathy Frontal bossing Tremor Downslanted palpebral fissures Skeletal muscle atrophy Myopia Brachydactyly Motor delay Delayed speech and language development Low-set ears Opsoclonus Muscle weakness Micrognathia Failure to thrive Scoliosis Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Nephroblastomatosis Thymus hyperplasia Abdominal mass Large hands Growth abnormality Cerebral calcification Pneumothorax Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Premature chromatid separation Ependymoma Shagreen patch Chylothorax Gingival fibromatosis Brain neoplasm Connective tissue nevi Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Hyperventilation Infantile spasms Aortic aneurysm Precocious puberty CNS hypomyelination Tachypnea Hypoplasia of dental enamel Heterotopia Generalized-onset seizure Pulmonary lymphangiomyomatosis Rhabdomyoma Abnormality of the outer ear Conductive hearing impairment Accelerated skeletal maturation Nephrocalcinosis Nephrolithiasis Large fontanelles Recurrent urinary tract infections Omphalocele Dandy-Walker malformation Vesicoureteral reflux Postural instability Postaxial polydactyly Pulmonary hypoplasia Wide mouth Hydronephrosis Hypoglycemia Subungual fibromas Polyhydramnios Proptosis Polydactyly Myoclonus Abnormal heart morphology Hernia Short nose Intrauterine growth retardation Hepatomegaly Cryptorchidism Cleft palate Abnormal facial shape Projection of scalp hair onto lateral cheek Achromatic retinal patches Cornea verticillata



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