Carcinoma, and Coarse facial features

Diseases related with Carcinoma and Coarse facial features

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


Top matches:

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

High match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

High 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

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Other less relevant matches:

High match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

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 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 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

High match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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

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

Top 5 symptoms//phenotypes associated to Carcinoma and Coarse facial features

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Carcinoma and Coarse facial features. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Strabismus Macrocephaly Generalized hypotonia Seizures Scoliosis Lymphedema Hypertension Conductive hearing impairment Short stature Pain Micrognathia Proptosis Abnormality of the kidney Abnormality of the skeletal system Downslanted palpebral fissures Atrial septal defect Joint hypermobility Frontal bossing Respiratory insufficiency Failure to thrive Growth delay Cardiomyopathy Edema Heart murmur Delayed speech and language development Epicanthus Intrauterine growth retardation Ptosis Intellectual disability, mild Sparse hair Delayed puberty Mandibular prognathia Thick lower lip vermilion Narrow palate Renal insufficiency High, narrow palate Thick vermilion border Cataract Joint laxity High palate Nevus Hepatomegaly Pectus excavatum Abnormal heart morphology Pointed chin Ventriculomegaly Nystagmus Hydrocephalus Cafe-au-lait spot Overgrowth Dilatation Vesicoureteral reflux Ventricular septal defect Clinodactyly Depressed nasal bridge Neuroblastoma Visual loss Cognitive impairment

Rare Symptoms - Less than 30% cases


Hypermetropia Postaxial polydactyly Hypodontia Polyhydramnios Wide mouth Intellectual disability, moderate Jaundice Apraxia Postural instability Hypoglycemia Hypothyroidism Hypoplasia of dental enamel Cutis laxa Hamartomatous polyposis Prolonged neonatal jaundice Agenesis of permanent teeth Large hands Nephroblastoma Redundant skin Abnormal dermatoglyphics Teratoma Accelerated skeletal maturation Short nose Midface retrusion Abnormal vertebral morphology Hernia Polydactyly Respiratory failure Cleft palate Pruritus Abdominal distention Hyperhidrosis Kyphoscoliosis Proteinuria Papule Hypotension Hyperpigmentation of the skin Bradycardia Relative macrocephaly Fragile nails Arrhythmia Posteriorly rotated ears Hyperkeratosis Abnormality of the dentition Abnormality of the nervous system Hypertrophic cardiomyopathy Tachycardia Hematuria Mitral valve prolapse Atrial fibrillation Tricuspid regurgitation Large earlobe Asymmetric septal hypertrophy Abnormal mitral valve morphology Concentric hypertrophic cardiomyopathy Abdominal pain Dysarthria Macroglossia Pulmonic stenosis Prominent supraorbital ridges Large for gestational age Neonatal hypoglycemia Rhabdomyosarcoma Vitreomacular adhesion Myopia Congestive heart failure Delayed skeletal maturation Brachycephaly Stroke Malabsorption Peripheral arterial stenosis Stage 5 chronic kidney disease Abnormality of the ribs Nephrotic syndrome Exotropia Hemivertebrae Spina bifida occulta Corneal dystrophy Glomerulosclerosis Telangiectasia of the skin Keratoconus Renal tubular acidosis Macrotia Motor delay Prominent forehead Failure to thrive in infancy Ganglioneuroma Thick upper lip vermilion Myopathy Thyroid carcinoma Achalasia Neoplasm of the endocrine system Wide nasal bridge Long philtrum Disproportionate tall stature Blepharophimosis Anemia Subcutaneous nodule Hemiparesis Abnormality of the skin Thick eyebrow Ovarian carcinoma Pes cavus Constipation Diarrhea Feeding difficulties Microcephaly Muscular hypotonia Anteverted nares Triangular face Behavioral abnormality Prominent nasal bridge Decreased body weight Optic atrophy Prominent nose Hypopigmentation of the skin Upslanted palpebral fissure Long eyelashes Spasticity Bulbous nose Microphthalmia Retinal vascular tortuosity Reduced ejection fraction Abnormality of femur morphology Nephrogenic diabetes insipidus Chronic fatigue Increased blood urea nitrogen Decreased glomerular filtration rate Myocardial fibrosis Sinus bradycardia Chronic obstructive pulmonary disease Angina pectoris Shortened QT interval Clubbing of fingers Vascular tortuosity Heat intolerance Abnormality of the nose Angiokeratoma corporis diffusum Supraventricular tachycardia Decreased lacrimation Shortened PR interval Narrow mouth Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Hyposthenuria Restrictive cardiomyopathy Abnormality of temperature regulation Chronic pain Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Reduced sperm motility Tubulointerstitial fibrosis Abnormal renal physiology Vascular skin abnormality Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Angiokeratoma Obstructive lung disease Impaired temperature sensation Distal renal tubular acidosis Corneal crystals High-frequency hearing impairment Abnormal myocardium morphology Limb pain Abnormal thrombosis Orthostatic hypotension Transient ischemic attack Mitral regurgitation Abnormality of the cardiovascular system Thin vermilion border Ventricular hypertrophy Smooth philtrum Myocardial infarction Palpitations Abnormal lung morphology Syncope Left ventricular hypertrophy Anorexia Hypohidrosis Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Urinary incontinence Sudden cardiac death Purpura Cough Dyspnea Arthralgia Myalgia Arthritis Anxiety Developmental regression Skin rash Corneal opacity Chest pain Abnormality of the cerebral white matter Nausea and vomiting Paresthesia Vertigo Nausea Nephropathy Muscle cramps Aminoaciduria Hyperlipidemia Xerostomia Progressive sensorineural hearing impairment Loss of consciousness Bundle branch block Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Celiac disease Anhidrosis Glomerulopathy Abnormal heart valve morphology Glycosuria Wheezing Aortic root aneurysm Abnormality of lipid metabolism Abnormal EKG Emphysema Polyuria Ventricular tachycardia Easy fatigability Aortic regurgitation Abnormal intestine morphology Progressive hearing impairment Ischemic stroke Reduced bone mineral density Ventricular arrhythmia Tinnitus Atrioventricular block Diabetes insipidus Chronic kidney disease Abnormality of the hand Hemiplegia Polydipsia Personality changes Clubbing Impaired vibratory sensation Coronary artery stenosis Tortuosity of conjunctival vessels Mucosal telangiectasiae Fasting hypoglycemia Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Broad philtrum Hypoplasia of teeth Verrucae Concave nail Pneumothorax Hyperextensibility of the finger joints Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Central apnea Large forehead Bronchomalacia Soft skin Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Obstructive sleep apnea Achilles tendon contracture Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Megalencephaly Barrel-shaped chest Progeroid facial appearance Woolly hair Fetal distress Papilloma Curly hair Macrocephaly at birth Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Enlarged cerebellum Deep-set nails Myofiber disarray Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Embryonal rhabdomyosarcoma Vestibular Schwannoma Large face Abnormal pulmonary valve morphology Thin nail Deep plantar creases Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Duodenal ulcer Frontal hirsutism Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Shyness Hypopnea Transitional cell carcinoma of the bladder Ganglioneuroblastoma Rhabdomyolysis Reduced subcutaneous adipose tissue Unexplained fevers Severe short stature Talipes equinovarus Short neck Cerebral atrophy Abnormality of cardiovascular system morphology Absent speech Inguinal hernia Osteoporosis Low-set ears Hypogonadism Cerebral cortical atrophy Gastroesophageal reflux Osteopenia Low-set, posteriorly rotated ears Apnea Feeding difficulties in infancy Dysphagia Cornea verticillata Postnatal growth retardation Left ventricular septal hypertrophy ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tenesmus Abnormal glomerular filtration rate Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Irritability Pectus carinatum Neurodevelopmental delay Poor suck Abnormality of the fingernails Acanthosis nigricans Infantile muscular hypotonia Hemangioma Arnold-Chiari malformation Laryngomalacia Hyperextensible skin Abnormality of dental enamel Pyloric stenosis Aortic aneurysm Pleural effusion Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Rocker bottom foot Short chin Hoarse voice Arthrogryposis multiplex congenita Full cheeks Joint hyperflexibility Astigmatism Wide nose Sleep disturbance Ascites Tetraplegia Sepsis Premature birth Abnormality of the hair Webbed neck Growth hormone deficiency Hip dysplasia Eczema Epidermal acanthosis Wide anterior fontanel Hydrops fetalis Scrotal hypoplasia Plantar pits Flexion contracture Pancreatic cysts Diastasis recti Nonimmune hydrops fetalis Hemihypertrophy Gonadoblastoma Hypoplasia of the thymus Visceromegaly Abnormality of the tongue Nevus flammeus Duodenal stenosis Unilateral cryptorchidism Diaphragmatic eventration Abdominal wall defect Hepatoblastoma Embryonal neoplasm Ketosis Enlarged kidney Prune belly Prominent occiput Nephrolithiasis Nephrocalcinosis Abnormality of the outer ear Growth abnormality Polycystic kidney dysplasia Hypercalciuria Abnormality of the ear Foot polydactyly Tibial bowing Broad palm Hamartoma Congenital hypothyroidism Prominent metopic ridge Aniridia Protuberant abdomen Renal cortical cysts Flank pain Recurrent urinary tract infections Abnormality of the liver Acidosis Hepatosplenomegaly Deeply set eye Elevated hepatic transaminase Protruding ear Craniosynostosis Scarring Clinodactyly of the 5th finger Retinopathy Bone marrow hypocellularity Short philtrum Broad forehead Low anterior hairline Dental malocclusion Anal atresia Breast carcinoma Proximal placement of thumb Adrenocortical carcinoma Adrenocortical cytomegaly Posterior helix pit Opsoclonus Abdominal mass Thymus hyperplasia Nephroblastomatosis Macrodontia Overgrowth of external genitalia Areflexia Pancreatic hyperplasia Fibrous hamartoma Pancreatoblastoma Congenital mesoblastic nephroma Stomach cancer Chromosome breakage Ovarian neoplasm Large fontanelles Omphalocele Abnormality of skin pigmentation Nodular goiter Elevated urinary epinephrine Subcutaneous neurofibromas Narrow face Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Reduced number of teeth Inguinal freckling Elevated calcitonin Precocious puberty Schizencephaly Colonic diverticula Partial agenesis of the corpus callosum Medullary thyroid carcinoma Lisch nodules Tall stature Heterotopia Poor coordination Genu valgum Patent ductus arteriosus Neonatal hypotonia Aggressive behavior Respiratory tract infection Leukemia Dolichocephaly Hyperreflexia Clumsiness Multiple mucosal neuromas Otitis media Renal agenesis Ganglioneuromatosis Sloping forehead Prominent corneal nerve fibers Small nail Acute lymphoblastic leukemia High anterior hairline Cardiomegaly Polyneuropathy Acne Goiter Myoclonus Hyperactivity Aganglionic megacolon Umbilical hernia Hydronephrosis Freckling Hyperlordosis Attention deficit hyperactivity disorder Pulmonary hypoplasia Photophobia Renal cyst Kyphosis Dandy-Walker malformation Neurofibromas Respiratory distress Enlarged cisterna magna Overbite Long foot Advanced eruption of teeth Cavum septum pellucidum Oxycephaly Periventricular leukomalacia Abnormal glucose tolerance Parathyroid hyperplasia Flushing Pheochromocytoma Hyperplasia of the maxilla Expressive language delay Sacrococcygeal teratoma Gray matter heterotopias Small cell lung carcinoma Abnormality of the cerebral ventricles Hip dislocation Cirrhosis Intellectual disability, severe Vertebral fusion Nephritis Melanocytic nevus Inflammation of the large intestine Milia Basal cell carcinoma Long fingers Colitis Joint stiffness Abnormality of the sternum Thoracic scoliosis Sprengel anomaly Narrow nose Agenesis of corpus callosum Down-sloping shoulders Skin tags Glomerulonephritis Neoplasm of the skin Abnormality of the neck Iris coloboma Paraparesis Hypotrichosis Carious teeth Arachnodactyly Cleft upper lip Oral cleft Palmoplantar keratoderma Hypogonadotrophic hypogonadism Paraplegia Cerebral calcification Spastic paraplegia Abnormal pyramidal sign Spina bifida Short ribs Muscle stiffness Short 4th metacarpal Broad face Facial palsy Irregular ossification of hand bones Cardiac rhabdomyoma Odontogenic keratocysts of the jaw Ovarian fibroma Pes planus Bridged sella turcica Cardiac fibroma Hamartomatous stomach polyps Curved fingers Sensorineural hearing impairment Peripheral neuropathy Fever Fatigue Vomiting Headache Depressivity Bifid ribs Histiocytoma Ulcerative colitis Fibroma Brain neoplasm Astrocytoma Medulloblastoma Ectopic calcification Supernumerary ribs Cervical ribs Abnormality of the sense of smell Calcification of falx cerebri Vertebral wedging Parietal bossing Multiple impacted teeth Severe hydrocephalus Short distal phalanx of the thumb Palmar pits Orbital cyst Coloboma Cleft lip Hepatic failure Long nose Noncommunicating hydrocephalus Corticospinal tract hypoplasia Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Chorioretinal atrophy Flexion contracture of thumb Renal hypoplasia/aplasia Clear cell renal cell carcinoma Aqueductal stenosis Abnormality of the ureter Posterior embryotoxon Exocrine pancreatic insufficiency Hepatocellular carcinoma Dilatation of the cerebral artery Portal hypertension Hypercholesterolemia Pulmonary artery stenosis Pigmentary retinopathy Flat face Short distal phalanx of finger Microcornea Round face Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Finger clinodactyly Coarctation of aorta Renal hypoplasia Hypertriglyceridemia Cholestasis Abnormal form of the vertebral bodies Renal dysplasia Multicystic kidney dysplasia Abnormality of the vasculature Coronal craniosynostosis Telecanthus Brachydactyly Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Ataxia Absent septum pellucidum Hemiplegia/hemiparesis Adducted thumb Intrahepatic biliary atresia Syndactyly Increased intracranial pressure Glaucoma Holoprosencephaly Retrognathia EEG abnormality Spastic paraparesis Unicoronal synostosis Chronic hepatic failure Intrahepatic cholestasis Arterial stenosis Renal cell carcinoma Cholestatic liver disease Abnormal pupil morphology Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Butterfly vertebrae Multiple small medullary renal cysts Abnormal anterior chamber morphology Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Renal artery stenosis Increased corneal curvature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Otitis media, related diseases and genetic alterations Macrocephaly and Tetraplegia, related diseases and genetic alterations Low-set ears and Abnormality of the skeletal system, related diseases and genetic alterations Ptosis and Bone marrow hypocellularity, related diseases and genetic alterations Microcephaly and Dolichocephaly, related diseases and genetic alterations

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