Carcinoma, and Hip dysplasia

Diseases related with Carcinoma and Hip dysplasia

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


Top 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 FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

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

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Other less relevant matches:

Low 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

Low 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

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 ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Low match THYROID CARCINOMA, HURTHLE CELL


Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Related symptoms:

  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CARCINOMA, HURTHLE CELL

Top 5 symptoms//phenotypes associated to Carcinoma and Hip dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Abnormality of cardiovascular system morphology Cataract Anteverted nares Hip dislocation Hypogonadism Hearing impairment Micrognathia Global developmental delay Hypertelorism Cognitive impairment Seizures Atrial septal defect Nystagmus Proptosis Sparse hair Hypermetropia Decreased body weight High palate Hydrocephalus Kyphosis Abnormal cardiac septum morphology Macrotia Abnormality of the testis Conductive hearing impairment Upslanted palpebral fissure Microcephaly Cardiomyopathy Delayed speech and language development Ventriculomegaly Cryptorchidism Ptosis Low-set ears Depressed nasal bridge Myopia Joint hypermobility Prominent forehead Delayed puberty Laryngomalacia Generalized hypotonia Hepatomegaly Frontal bossing Constipation Hyperinsulinemia Lack of skin elasticity Feeding difficulties in infancy Low-set, posteriorly rotated ears Fragile nails Congestive heart failure Hepatic steatosis Hypotrichosis Joint laxity Downslanted palpebral fissures Convex nasal ridge Macrocephaly Abnormality of retinal pigmentation Sacral dimple Heterotopia Narrow palate Abnormality of chromosome stability Failure to thrive in infancy Pyloric stenosis Joint stiffness Clinodactyly of the 5th finger Intellectual disability, moderate Alopecia Hypertrophic cardiomyopathy Long philtrum Delayed skeletal maturation Small for gestational age Severe short stature Hypopigmentation of the skin Osteoporosis Blepharophimosis Absent speech Ovarian neoplasm Intrauterine growth retardation Abnormality of the dentition Pes planus Hyperkeratosis Ventricular septal defect Hypothyroidism Abnormal heart morphology Anemia Muscular hypotonia Visual impairment Hypospadias Cleft palate

Rare Symptoms - Less than 30% cases


Neoplasm of the skin Clinodactyly Metaphyseal widening Lymphopenia Squamous cell carcinoma Aplastic anemia High hypermetropia Thrombocytosis Overweight B-cell lymphoma Microphthalmia Hypoplastic anemia Expressive language delay Pain Sparse and thin eyebrow Decreased antibody level in blood Aganglionic megacolon EEG abnormality Wide nasal bridge Immunodeficiency Recurrent infections Thrombocytopenia Duodenal stenosis Chromosome breakage Brachycephaly Bone marrow hypocellularity Skeletal dysplasia Leukemia Abnormal form of the vertebral bodies Narrow chest Short palm Small hand Neutropenia Lymphoma Splenomegaly Bicuspid aortic valve Prominent nasal bridge Abnormality of the ribs Depressed nasal ridge Hydronephrosis Generalized hirsutism Fever Patent ductus arteriosus Insulin resistance Aortic valve stenosis Increased bone mineral density Hypergonadotropic hypogonadism Hypercholesterolemia Nasal speech Cleft upper lip Premature ovarian insufficiency Abnormality of the thorax Premature graying of hair Lipoatrophy Osteolytic defects of the phalanges of the hand Prominent superficial veins Diabetes mellitus Hypertriglyceridemia Abnormality of the eye Oral cleft Abnormality of the kidney Abnormality of the liver Abnormality of the foot Tetralogy of Fallot Abnormality of the genital system Telangiectasia Cranial nerve paralysis Reduced bone mineral density Abnormality of vision Abnormality of the urinary system Telangiectasia of the skin Hypoplasia of the corpus callosum Thin skin Limitation of joint mobility Optic atrophy Multiple cafe-au-lait spots Narrow palpebral fissure Headache Finger syndactyly Dolichocephaly Carious teeth Facial asymmetry Abnormality of skin pigmentation Long face Polymicrogyria Renal cyst Open mouth Abnormal vertebral morphology Poor speech Lipodystrophy Spinal canal stenosis Thin vermilion border Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Meningioma Arteriovenous malformation Lower limb asymmetry Abnormality of the neck Sensorineural hearing impairment Skeletal muscle atrophy Malar flattening Midface retrusion Narrow mouth Thin nail Dilated cardiomyopathy Microtia Thin bony cortex Large face Nevus Abnormality of the skin Growth hormone deficiency Rocker bottom foot Cafe-au-lait spot Neuroblastoma Generalized hyperpigmentation Arnold-Chiari type I malformation Progeroid facial appearance Eczema Postural instability Short nose Renal insufficiency Thick upper lip vermilion High, narrow palate Cerebral atrophy Redundant neck skin Pectus excavatum Overgrowth Hyperglycemia Joint hyperflexibility Relative macrocephaly Pointed chin Abnormality of dental enamel Acanthosis nigricans Short neck Lymphedema Infantile muscular hypotonia Hemangioma Respiratory insufficiency Wide anterior fontanel Mitral valve prolapse Dysphagia Long eyelashes Motor delay Myopathy Epidermal acanthosis Aortic aneurysm Feeding difficulties Heart murmur Astigmatism Abnormality of the hair Posteriorly rotated ears Coarse facial features Pectus carinatum Pes cavus Cerebral cortical atrophy Irritability Kyphoscoliosis Arthrogryposis multiplex congenita Postnatal growth retardation Gastroesophageal reflux Osteopenia Pulmonic stenosis Glycosuria Absence of pubertal development Sparse body hair Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Aplasia/Hypoplasia of the skin Decreased fertility Secondary amenorrhea Prematurely aged appearance Insulin-resistant diabetes mellitus Aplasia/Hypoplasia of the eyebrow Renal neoplasm Inguinal hernia Abnormality of the voice Coronary artery atherosclerosis Ataxia Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Congenital cataract Fatigue Hyperreflexia Retinal degeneration Type II diabetes mellitus Calf muscle hypertrophy Tapering pointed ends of distal finger phalanges Skin ulcer Narrow face Finger clinodactyly Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormality of the cerebral vasculature Osteosarcoma Exercise-induced myalgia Peripheral arterial stenosis Progressive clavicular acroosteolysis Neoplasm of the thyroid gland Prominent scalp veins Intervertebral disc degeneration Premature arteriosclerosis Bird-like facies Neoplasm of the oral cavity Mitral valve calcification Reticulated skin pigmentation Parietal bossing Patchy hypo- and hyperpigmentation Sclerosis of hand bone Widely patent fontanelles and sutures Abnormality of circulating leptin level Intermittent claudication Edema Hypoplastic facial bones Old-aged sensorineural hearing impairment Pili torti Generalized lipodystrophy Carotid artery stenosis Chondrocalcinosis Respiratory distress White forelock Abnormality of the pulmonary artery Narrow nasal tip Abnormal hair quantity Neoplasm of the breast Craniofacial disproportion Aortic valve calcification Fasting hyperinsulinemia Abnormal hair whorl Abnormality of the Achilles tendon Bilateral coxa valga Neoplasm of the small intestine Subcutaneous calcification Aplasia/Hypoplasia of the uvula Compensated hypothyroidism Neoplasm of head and neck Tracheoesophageal fistula Hypopigmented skin patches Hyperhidrosis Respiratory failure Intellectual disability, mild Myelodysplasia Triphalangeal thumb Glucose intolerance Azoospermia Hypoplasia of the ulna Ectopic kidney Hydroureter Absent thumb Umbilical hernia Myeloid leukemia Renal hypoplasia/aplasia Leukopenia Acute myeloid leukemia Oligohydramnios Vertigo Bruising susceptibility Renal agenesis Arrhythmia Toe syndactyly Sloping forehead Pancytopenia Type I diabetes mellitus Short palpebral fissure Choanal atresia Recurrent urinary tract infections Hernia Short thumb Spina bifida Horseshoe kidney Polyhydramnios Abnormality of blood and blood-forming tissues Deficient excision of UV-induced pyrimidine dimers in DNA Clubbing of toes Duplicated collecting system Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Partial duplication of thumb phalanx Decreased fertility in males Abnormality of nervous system morphology Chromosomal breakage induced by crosslinking agents Absent testis Anal atresia Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Anemic pallor Primary hypothyroidism Abnormal aortic morphology Absent radius Abnormality of the upper limb Aplasia/Hypoplasia of the radius Weight loss External ear malformation Hearing abnormality Abnormal eyelid morphology Abnormality of the ulna Abnormality of the uterus Reticulocytopenia Abnormality of the thumb Bicornuate uterus Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Abnormality of femur morphology Cleft lip Vomiting Ocular albinism Submucous cleft hard palate Aortic root aneurysm Foot polydactyly Epileptic spasms Self-mutilation Hiatus hernia Abnormal eyebrow morphology Coronal craniosynostosis Short 5th finger Anteriorly placed anus Missing ribs Abnormality of the gastrointestinal tract Optic nerve coloboma 11 pairs of ribs Dilation of lateral ventricles Delayed CNS myelination Volvulus Left ventricular noncompaction Congenital hypothyroidism Slender long bone Delayed closure of the anterior fontanelle Congenital sensorineural hearing impairment Leukoencephalopathy Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Delayed gross motor development Patent foramen ovale Hand polydactyly Self-injurious behavior Clitoral hypertrophy Hemiplegia/hemiparesis Absent septum pellucidum Metatarsus adductus Delayed cranial suture closure Dysphasia Hypermelanotic macule Polyphagia Macule Infantile spasms Abnormal heart valve morphology Abnormality of the immune system Abnormality of the spleen Rib fusion Spastic tetraparesis Abnormality of the femoral neck Cranial nerve VI palsy Noncompaction cardiomyopathy Asymmetry of the ears Oppositional defiant disorder Abnormality of the hairline Hypoplastic female external genitalia Bifid ribs Ebstein anomaly of the tricuspid valve Widened subarachnoid space Talipes valgus Bilobate gallbladder Congenital talipes calcaneovalgus Aplasia/Hypoplasia involving bones of the feet Hyperplastic labia majora Abnormal parietal bone morphology Abnormality of the cerebral ventricles Abnormality of the renal pelvis Solitary renal cyst Abnormal social behavior Abnormal external genitalia Thickened helices Lambdoidal craniosynostosis Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Biliary tract abnormality Cavum septum pellucidum Periventricular leukomalacia Abnormal corpus callosum morphology Impaired social interactions Abnormality of female external genitalia Horizontal eyebrow Abnormality of the mandible Gastric ulcer Abnormality of the anus Abnormality of the optic disc Abnormality of brain morphology Aortic arch aneurysm Annular pancreas Muscle flaccidity Hypoplastic labia minora Abnormal intestine morphology Short phalanx of finger Depressivity Abnormality of the sternum Abnormality of the genitourinary system Elbow dislocation Sparse eyebrow Overfolded helix Impulsivity Cortical dysplasia Long fingers Vertebral fusion Slender finger Dysarthria Prominent metopic ridge Spondylolisthesis Glioma Abnormality of hair texture Abnormality of the head Anteverted ears Chronic infection Prominent fingertip pads Widely spaced teeth Joint dislocation Narrow palm Arachnodactyly Hyperactivity High forehead Anxiety Sinus tachycardia Pallor Protruding ear Scarring Broad forehead Dry skin Status epilepticus Talipes equinovarus Bulbous nose Everted lower lip vermilion Vesicoureteral reflux Underdeveloped nasal alae Otitis media Focal-onset seizure Wide intermamillary distance Hypotelorism Multifocal epileptiform discharges Pear-shaped nose Stereotypy Optic disc pallor Short foot Bifid uvula Brain atrophy Delayed myelination Intestinal malrotation Epileptic encephalopathy Abnormal blistering of the skin Hypoplasia of penis Coarctation of aorta Abnormality of the cerebral white matter Hypsarrhythmia Interphalangeal joint contracture of finger Ventricular hypertrophy Tetraparesis Hypertrichosis Mitral regurgitation Pachygyria Large fontanelles Synophrys Neurological speech impairment Conspicuously happy disposition Obesity Broad chin Positional foot deformity Abnormality of hair pigmentation Hypotrophy of the small hand muscles Muscle weakness Brachydactyly Gait disturbance Behavioral abnormality Agenesis of corpus callosum Camptodactyly of finger Micropenis Autism Mandibular prognathia Deeply set eye Neonatal hypotonia Aggressive behavior Camptodactyly Abnormality of the pinna Coloboma Corneal arcus Hyperphosphatemia Decreased testosterone in males Limited elbow extension Genu varum Portal hypertension Cone-shaped epiphysis Tricuspid regurgitation Short thorax Mesomelia Femoral bowing Basal cell carcinoma Disproportionate short-limb short stature Tibial bowing Abnormality of the hip bone Hypoplastic toenails Metaphyseal dysplasia Macrocytic anemia Hodgkin lymphoma Anal stenosis Hypoplasia of the odontoid process Abnormality of pelvic girdle bone morphology Large for gestational age Distal arthrogryposis Curly hair Fine hair Ulnar deviation of finger Abnormality of the metaphysis Rhabdomyolysis Bowing of the long bones Bronchiectasis Abnormality of epiphysis morphology Rhizomelia Gingival overgrowth Reduced tendon reflexes Keratoconus Reduced subcutaneous adipose tissue Short ribs Hypocalcemia Sparse eyelashes Accelerated skeletal maturation Neurodevelopmental delay Abnormal palate morphology Esophageal atresia Exocrine pancreatic insufficiency Lumbar hyperlordosis Metaphyseal dysostosis Abnormally ossified vertebrae Redundant skin Abnormal T cell morphology Abnormality of the distal phalanx of finger Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Impaired lymphocyte transformation with phytohemagglutinin Neonatal short-limb short stature Sparse facial hair Severe T-cell immunodeficiency Biconvex vertebral bodies Abnormality of humoral immunity Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma Abnormal bone ossification Congenital hypoplastic anemia Bilateral cryptorchidism Aplasia/Hypoplasia affecting the eye Upper limb undergrowth Heart block Fair hair Tracheal stenosis Generalized joint laxity Pleural effusion Abnormality of the pancreas Aplasia/Hypoplasia of the abdominal wall musculature Metaphyseal chondrodysplasia Spinal dysraphism Cellular immunodeficiency Metaphyseal cupping Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Mucopolysacchariduria Normocytic anemia Hypersplenism Blue sclerae Tracheomalacia Poor suck Tendon rupture Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Enlarged cerebellum Myofiber disarray Vitreomacular adhesion Alveolar rhabdomyosarcoma Neonatal sepsis Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Increased corneal curvature Papilloma Bronchomalacia Fetal distress Choroid plexus papilloma Multifocal atrial tachycardia Abnormality of earlobe Body odor Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Postprandial hyperglycemia Embryonal rhabdomyosarcoma Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Limited elbow movement Schwannoma Central hypotonia Thickened nuchal skin fold Large forehead Achilles tendon contracture Pneumonia Large earlobe Woolly hair Barrel-shaped chest Megalencephaly Hyperlordosis Microscopic hematuria Dilatation Severe postnatal growth retardation Malabsorption Obstructive sleep apnea Micromelia Soft skin Neonatal hypoglycemia Syringomyelia Gastrointestinal hemorrhage Verrucae Central apnea Broad femoral neck Breast carcinoma Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Dental malocclusion Low anterior hairline Fasting hypoglycemia Proximal placement of thumb Diarrhea Broad philtrum Abnormal mitral valve morphology Stomach cancer Macrodontia Asymmetric septal hypertrophy Ovarian carcinoma Deep palmar crease Labial hypoplasia Hyperextensible skin Arnold-Chiari malformation Premature coronary artery atherosclerosis Myocardial infarction Delayed eruption of teeth Hypodontia Chest pain Nail dysplasia Cyanosis Abnormality of the cardiovascular system Cardiomegaly Hematuria Infertility Osteoarthritis Thick vermilion border Broad-based gait Left ventricular hypertrophy Dental crowding Hypohidrosis Wide nose Tachycardia Sleep disturbance Ascites Hypogonadotrophic hypogonadism Mandibular hyperostosis Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Central heterochromia Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Webbed neck Tetraplegia Flexion contracture Premature birth Full cheeks Sepsis Dementia Macroglossia Dyspnea Stroke Aspiration Coxa valga Thymus hyperplasia Precocious atherosclerosis Deep plantar creases Ovoid vertebral bodies Abnormality of the nervous system Hypoglycemia Angina pectoris Generalized osteoporosis Small face Aplasia/Hypoplasia of the earlobes Enlarged joints Transient ischemic attack Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Arteriosclerosis Narrow nasal ridge Aplastic clavicle Hip pain Absence of subcutaneous fat Down-sloping shoulders Absent eyelashes Aminoaciduria Prolonged QT interval Osteolysis Atherosclerosis Hyperlipidemia Dermal atrophy Intracranial hemorrhage Wide mouth Multiple joint contractures High pitched voice Exertional dyspnea Abnormal EKG Apnea Scleroderma Thin ribs Keratoconjunctivitis sicca Hypoplastic nipples Renal cell carcinoma Short clavicles Alopecia of scalp Retinal hamartoma Nevus sebaceous Syndactyly Melanocytic nevus Abnormality of the metacarpal bones Goiter Palmoplantar hyperkeratosis Reduced number of teeth Growth abnormality Cachexia Chorioretinal coloboma Hyperostosis Hyperpigmentation of the skin Diabetes insipidus Decreased muscle mass Hallux valgus Disproportionate tall stature Pericardial effusion Neurofibromas Multiple lipomas Hypoplasia of dental enamel Venous thrombosis Abnormality of the nail Pulmonary embolism Confusion Visual loss Abnormal dermatoglyphics Abdominal pain Glaucoma Cutis laxa Craniosynostosis Abnormality of the fingernails Short chin Hoarse voice Sinusitis Abdominal distention Sudden cardiac death Gliosis Round face High myopia Hydrops fetalis Subcutaneous nodule Thickened skin Hamartoma Atrial fibrillation Facial hyperostosis Upper limb asymmetry Vascular skin abnormality Thrombophlebitis Generalized hyperkeratosis Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Nephrogenic diabetes insipidus Keloids Testicular neoplasm Asymmetric growth Lymphangioma Epidermal nevus Metatarsus valgus Calvarial hyperostosis Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal Asymmetry of the thorax Enlarged polycystic ovaries Thick lower lip vermilion Macroorchidism Apraxia Lipoma Exostoses Papilledema Capillary hemangioma Spinal cord compression Abnormality of finger Abnormality of the wrist Deep venous thrombosis Thick nasal alae Varicose veins Hemihypertrophy Anisocytosis Arterial thrombosis Buphthalmos Myofibrillar myopathy Long penis Visceral angiomatosis Agenesis of the anterior commissure



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