Hepatomegaly, and Coarctation of aorta

Diseases related with Hepatomegaly and Coarctation of aorta

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

Top matches:

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Other less relevant matches:

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

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 NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Coarctation of aorta

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Coarctation of aorta. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Pulmonic stenosis Abnormal facial shape Intellectual disability Micrognathia Hepatic failure Cryptorchidism Stroke Congestive heart failure Syndactyly Downslanted palpebral fissures Seizures Muscular hypotonia Strabismus Hearing impairment Abnormal cardiac septum morphology Intrauterine growth retardation Low-set ears Triangular face Depressed nasal bridge Hepatosplenomegaly Hydronephrosis Hernia Polyhydramnios Ptosis Feeding difficulties Dysphagia Pulmonary artery stenosis Hypertension Renal tubular acidosis Short neck Heart murmur Brachydactyly Encephalopathy Renal dysplasia Edema Thrombocytopenia Lymphedema Hypertrophic cardiomyopathy Tetralogy of Fallot Pigmentary retinopathy Feeding difficulties in infancy Coarse facial features Myopia Clinodactyly Muscle weakness Renal insufficiency Delayed skeletal maturation Talipes equinovarus Abnormal bleeding Abnormality of the eye Scarring Abnormality of the liver Cavernous hemangioma Kyphoscoliosis Agenesis of corpus callosum Broad forehead Dilatation Nystagmus Blindness Melanocytic nevus Premature skin wrinkling Frontal bossing Abnormality of the kidney Cirrhosis Acidosis Webbed neck Neoplasm Pruritus Talipes Scoliosis Epicanthus Retinopathy Macrocephaly Abnormal heart morphology Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases

Stage 5 chronic kidney disease Exotropia Vertebral segmentation defect Severe global developmental delay Aplasia/Hypoplasia of the corpus callosum Biparietal narrowing Dilatation of the cerebral artery Generalized hypotonia Ataxia Abnormality of vision Hemangioma Sensorineural hearing impairment Irritability Optic atrophy Neurofibromas Myopathy Vomiting Areflexia Proximal muscle weakness Cardiomyopathy Delayed puberty Hepatic steatosis Abnormality of refraction Dental malocclusion Low posterior hairline Abnormality of the genital system Decreased body weight Cafe-au-lait spot Arnold-Chiari malformation Bilateral ptosis Failure to thrive in infancy Pleural effusion Cubitus valgus Curly hair Abnormality of the testis Abnormal mitral valve morphology Thick vermilion border Thickened helices Abnormality of the pulmonary artery Multiple lentigines Hyperkeratosis pilaris Puberty and gonadal disorders Abnormal location of ears Hydrocephalus Inguinal hernia Umbilical hernia Abnormality of the cerebral white matter Intestinal malrotation Hydroureter High, narrow palate Bruising susceptibility Premature birth Abnormality of the ureter Cardiomegaly Ventricular hypertrophy Aspiration Cataract Prominent forehead Macrotia Nevus Anal atresia Abnormality of skin pigmentation Vesicoureteral reflux Portal hypertension Malnutrition Chronic hepatic failure Joint hypermobility High palate Dysarthria Abnormality of cardiovascular system morphology Pectus excavatum Constipation Proptosis High forehead Gastroesophageal reflux Low-set, posteriorly rotated ears Sparse hair Pectus carinatum Neurological speech impairment Dandy-Walker malformation Multicystic kidney dysplasia Poor suck Posterior embryotoxon Malabsorption Renal cyst Cyanosis Renal hypoplasia Cholestasis Pointed chin Rickets Long nose Exocrine pancreatic insufficiency Abnormality of the skeletal system Wolff-Parkinson-White syndrome Cholestatic liver disease Peripheral pulmonary artery stenosis Butterfly vertebrae Axenfeld anomaly Hyperreflexia Ventriculomegaly Microphthalmia Jaundice Anemia Osteopenia Polydactyly Hepatic fibrosis Cutis laxa Deep philtrum Patent foramen ovale Oligohydramnios Biventricular hypertrophy Respiratory insufficiency Respiratory distress Cleft lip Atrioventricular canal defect Cleft upper lip Postaxial polydactyly Hypodontia Postaxial hand polydactyly Small nail Horseshoe kidney Short philtrum Wide mouth Alopecia Wide anterior fontanel EEG abnormality Carcinoma Attention deficit hyperactivity disorder Ichthyosis Telecanthus Iris coloboma Hypopigmentation of the skin Relative macrocephaly Bulbous nose Falls Long face Peripheral axonal neuropathy Dry skin Astigmatism Genu valgum Hypotrichosis Hypermetropia Ambiguous genitalia, female Dolichocephaly Redundant skin Nail dystrophy Sleep disturbance Leukemia Erythema Respiratory tract infection Aggressive behavior Small for gestational age Autism Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Posteriorly rotated ears Brittle hair Synophrys Retinal dystrophy Palmoplantar keratoderma Palmoplantar hyperkeratosis Thickened skin Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Cerebral visual impairment Hyperpigmentation of the skin Open mouth Abdominal distention Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Narrow forehead Hyperextensible skin Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Accessory spleen Depressivity Full cheeks Elevated alpha-fetoprotein Malar flattening Lobulated tongue Unilateral ptosis Prominent nasolabial fold Superior pectus carinatum Pancytopenia Reduced factor XII activity Olfactory lobe agenesis Reduced factor XI activity Abnormal platelet function Large placenta Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Intestinal lymphangiectasia Neurofibrosarcoma Occipital meningocele Abnormality of the mandible Prolonged QRS complex Telangiectasia Abnormality of the lymphatic system Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Amegakaryocytic thrombocytopenia Asthma Cerebral atrophy Urethral obstruction Scaling skin Long philtrum Short nose Meningoencephalocele Urethral atresia Neural tube defect Kyphosis Behavioral abnormality Hypertonia Cerebral hypoplasia Abnormality of the dentition Intellectual disability, severe Hypoplasia of the bladder Hypoplasia of lymphatic vessels Thin vermilion border Anteverted nares Delayed speech and language development Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Elevated amniotic fluid alpha-fetoprotein Sparse eyebrow Ectropion Spina bifida Spastic diplegia Abnormality of the uterus Right ventricular failure Esophageal varix Prominent superficial veins Abnormality of the larynx Calcinosis Bile duct proliferation Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Abnormality of the coagulation cascade Breech presentation Cystic renal dysplasia Cutis marmorata Ischemic stroke Hyperammonemia Pulmonary arterial hypertension Hip dysplasia Ascites Hyperactivity Motor delay Oral aversion Multiple plantar creases Ambiguous genitalia, male Eyelid fasciculation Aplasia cutis congenita of scalp Hypersplenism Abnormality of the auditory canal Anencephaly Spontaneous abortion Polycystic kidney dysplasia Preaxial polydactyly Radial deviation of finger External genital hypoplasia Bowing of the long bones Encephalocele Occipital encephalocele Natal tooth Omphalocele Hypotelorism Sloping forehead Renal agenesis Portal vein thrombosis Foot polydactyly Pulmonary hypoplasia Adrenal hypoplasia Cerebellar hypoplasia Meningocele Cleft palate Single umbilical artery Asplenia Microcephaly Right atrial enlargement Calcinosis cutis Cutis marmorata telangiectatica congenita Prominent scalp veins Multiple palmar creases Inappropriate crying Chronic otitis media Anal stenosis Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Decreased liver function Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Submucous cleft hard palate Thick upper lip vermilion Generalized hyperpigmentation Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Cerebellar dysplasia Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Woolly hair Abnormal hair pattern Cutaneous T-cell lymphoma Frontal balding Morphological abnormality of the gastrointestinal tract Portal fibrosis Abnormality of the hairline Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Endocarditis Dystrophic fingernails Increased nuchal translucency Sparse or absent eyelashes Abnormality of hair texture Excessive wrinkled skin Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Slow-growing hair Gastrointestinal dysmotility Deep palmar crease Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Arnold-Chiari type I malformation Generalized muscle weakness Aplasia/Hypoplasia of the abdominal wall musculature Optic disc pallor Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Exercise intolerance Horizontal nystagmus Cardiac arrest Cognitive impairment Leukodystrophy Left ventricular hypertrophy Mandibular prognathia Congenital diaphragmatic hernia Febrile seizures Oral-pharyngeal dysphagia Increased serum lactate Migraine Brain atrophy Gliosis Generalized myoclonic seizures Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Metabolic acidosis Proteinuria Dyskinesia Lactic acidosis Abnormality of movement Incoordination Adrenal insufficiency Limb muscle weakness Cerebral edema Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Severe lactic acidosis Global brain atrophy Corpus callosum atrophy Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Abnormality of eye movement Lethargy Partial atrioventricular canal defect Osteomalacia Abnormality of dental color Adenoma sebaceum Asymmetric growth Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Hemihypertrophy Abnormality of finger Gangrene Genu recurvatum Abnormality of the nervous system Irregular hyperpigmentation Coloboma Hemimegalencephaly Basal cell carcinoma Prominent occiput Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Corneal opacity Precocious puberty Ophthalmoplegia Facial asymmetry Reduced tendon reflexes Plagiocephaly Pachygyria Cerebral calcification Overgrowth Cranial asymmetry Epidermal nevus Hematuria Increased body weight Abnormal pyramidal sign Pallor Developmental regression Apnea Mental deterioration Muscular hypotonia of the trunk Myalgia Hypoglycemia Respiratory failure Myoclonus Pneumonia Babinski sign Hyporeflexia Dystonia Nevus sebaceous Cerebellar atrophy Poor coordination Fatigue Skeletal muscle atrophy Peripheral neuropathy Visual impairment Spasticity Dark urine Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Exercise-induced lactic acidemia Hypoplasia of the epiglottis Abnormality of the spleen Postnatal growth retardation Mitral regurgitation Thick lower lip vermilion Infra-orbital crease Mitral valve prolapse Wide intermamillary distance Otitis media Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Joint hyperflexibility Skeletal dysplasia Narrow chest Oral cleft Micronodular cirrhosis Hypogonadism Nail dysplasia Arrhythmia Limb undergrowth Midface retrusion Short ribs Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Cutaneous syndactyly Multiple small medullary renal cysts Functional respiratory abnormality Amblyopia Vitamin D deficiency Abnormality of digit Redundant neck skin Elevated circulating follicle stimulating hormone level Hydrops fetalis Abnormality of the helix Situs inversus totalis High anterior hairline Acute leukemia Thickened nuchal skin fold Abnormality of the mouth Acute lymphoblastic leukemia Aortic root aneurysm Thoracic scoliosis Male infertility Cystic hygroma Aortic valve stenosis Prolonged bleeding time Abnormality of coagulation Myopathic facies Recurrent fractures Abnormality of the thorax Clitoral hypertrophy Radioulnar synostosis Abnormality of the urinary system Coarse hair Dextrocardia Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Renal artery stenosis Papillary thyroid carcinoma Hydrometrocolpos Craniosynostosis Abnormality of the ribs Specific learning disability Gastrointestinal hemorrhage Prominent nose Round face Increased number of teeth Microcornea Short distal phalanx of finger Flat face Spinal canal stenosis Short clavicles Median cleft lip Protruding ear Hypertriglyceridemia Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Thoracic dysplasia Vaginal atresia Brachycephaly Upslanted palpebral fissure Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Visual loss Bilateral postaxial polydactyly Intellectual disability, mild Nephrotic syndrome Abnormal form of the vertebral bodies Band keratopathy Keratoconus Biliary atresia Abnormal anterior chamber morphology Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Abnormal pupil morphology Thyroid carcinoma Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Abnormality of the vasculature Hepatocellular carcinoma Cone-shaped epiphysis Telangiectasia of the skin Hamartoma Prolonged neonatal jaundice Chorioretinal atrophy Mesomelia Hypoplasia of the ulna Glomerulosclerosis Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Spina bifida occulta Finger clinodactyly Metaphyseal dysplasia Hemivertebrae Abnormal vertebral morphology Craniorachischisis


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