Epicanthus, and Aortic valve stenosis

Diseases related with Epicanthus and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Epicanthus and Aortic valve stenosis that can help you solving undiagnosed cases.


Top matches:

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

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Other less relevant matches:

Medium match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Medium match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

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

Medium match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Aortic valve stenosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Epicanthus and Aortic valve stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Short neck

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Webbed neck

Common Symptoms - More than 50% cases


Intellectual disability, mild

Uncommon Symptoms - Between 30% and 50% cases


Posteriorly rotated ears

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect

Common Symptoms - More than 50% cases


Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Prominent forehead

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Seizures Pectus carinatum Anteverted nares Pulmonic stenosis Ventriculomegaly Abnormal heart morphology Thin upper lip vermilion Macrocephaly Broad forehead Cleft palate Delayed speech and language development Clinodactyly Talipes equinovarus Wide nasal bridge Gastroesophageal reflux Abnormality of the dentition Frontal bossing Triangular face Ventricular septal defect Flexion contracture Conductive hearing impairment Motor delay Micropenis Bifid uvula Sensorineural hearing impairment Bruising susceptibility Dilatation Hydronephrosis Coarctation of aorta Hypospadias Leukemia Feeding difficulties in infancy Thick vermilion border Long philtrum Inguinal hernia Hernia Short nose Cleft lip Clinodactyly of the 5th finger Hypertension Cognitive impairment High forehead Microcephaly Postnatal growth retardation Osteopenia Telecanthus Osteoporosis Polyhydramnios Iris coloboma Low-set, posteriorly rotated ears Myopathy Midface retrusion Wide intermamillary distance Failure to thrive in infancy Hypogonadism Syndactyly Dolichocephaly Cubitus valgus Microtia Joint hypermobility Hypermetropia Myopia Smooth philtrum Anal atresia High, narrow palate Coloboma Craniosynostosis Intestinal malrotation Agenesis of corpus callosum Constipation Mitral regurgitation Edema Prominent fingertip pads Intellectual disability, severe Retrognathia Camptodactyly Low posterior hairline Spontaneous abortion Bicuspid aortic valve Bilateral ptosis Overfolded helix Cleft upper lip Arachnodactyly Cafe-au-lait spot Thrombocytopenia Behavioral abnormality Attention deficit hyperactivity disorder Pain Hyperactivity Cataract Abnormality of the skeletal system Single transverse palmar crease Delayed puberty Oral cleft Neoplasm Joint laxity Joint hyperflexibility Kyphoscoliosis Congestive heart failure Nasal speech Microphthalmia

Rare Symptoms - Less than 30% cases


Chylothorax Natal tooth Respiratory tract infection Abnormality of the spleen Pulmonary lymphangiectasia Optic atrophy Macrotia Neurological speech impairment Hypoplastic left heart Partial agenesis of the corpus callosum Abnormality of the genital system Curly hair Growth hormone deficiency Thick lower lip vermilion Pyloric stenosis Otitis media Dental malocclusion Gait disturbance Reduced factor XII activity Brachydactyly U-Shaped upper lip vermilion Flat occiput Nystagmus Unilateral ptosis Subvalvular aortic stenosis Dysphagia Autism Clitoral hypoplasia Psychosis Esotropia Tracheoesophageal fistula Hip dysplasia Anal stenosis Abnormality of the urinary system Tracheomalacia Lymphedema Sparse hair Hoarse voice Depressivity Diastasis recti Hepatosplenomegaly Poor suck Pulmonary arterial hypertension Bipolar affective disorder Dental crowding Pleural effusion Abnormality of the thorax Abnormal cardiac septum morphology Aspiration Decreased muscle mass Ectopic anus Horseshoe kidney Widow's peak Cerebral cortical atrophy Hypogonadotrophic hypogonadism Infantile muscular hypotonia Dystonia Amblyopia Holoprosencephaly Abnormal bleeding Neonatal hypotonia Kyphosis Abnormality of the nervous system Pes planus Skeletal dysplasia Arrhythmia Lymphoma Proptosis Narrow mouth Alopecia Coarse facial features Severe short stature Mandibular prognathia Hypertrophic cardiomyopathy Cardiomyopathy Facial asymmetry Small for gestational age Abnormality of the pinna Missing ribs Highly arched eyebrow Chorioretinal coloboma Prominent nasal bridge Apnea Trigonocephaly Hypothyroidism Ectropion Multiple lentigines Specific learning disability Recurrent respiratory infections Abnormal mitral valve morphology Long face Acute lymphoblastic leukemia Radioulnar synostosis Hypoglycemia Multicystic kidney dysplasia Spina bifida Scapular winging Spina bifida occulta Atrioventricular canal defect Intrauterine growth retardation Tapered finger Everted lower lip vermilion Mutism Abnormality of skin pigmentation Narrow chest Intellectual disability, moderate Fine hair Pachygyria Cutaneous photosensitivity Brachycephaly Weight loss Bilateral cryptorchidism Oligohydramnios Flat face Narrow forehead Hydrocephalus Rough bone trabeculation Upslanted palpebral fissure Broad clavicles Straight clavicles Hyporeflexia Alobar holoprosencephaly Obesity Flexion contracture of toe Large iliac wings Craniofacial osteosclerosis Laryngeal web Unilateral facial palsy High iliac wings Facial hyperostosis Vomiting Osteopathia striata Metaphyseal striations Fever Paranasal sinus hypoplasia Laryngotracheomalacia Fibular hypoplasia Asymmetry of the thorax Ataxia Large fontanelles Aganglionic megacolon Omphalocele Abnormality of the metaphysis Open mouth Lumbar hyperlordosis Cerebral calcification Abnormality of the skin Broad nasal tip Delayed eruption of teeth Thin vermilion border Ophthalmoplegia Paralysis Joint contracture of the hand Hyperlordosis Facial palsy Headache Hypoplasia of the corpus callosum 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 Abnormal vertebral morphology Increased bone mineral density Sclerosis of skull base Ankylosis Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Facial paralysis Large forehead Broad ribs Thoracic dysplasia Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Submucous cleft hard palate Narrow palate Thickened calvaria Mixed hearing impairment Visual field defect Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Nephroblastoma Metaphyseal widening Increased susceptibility to fractures Cutaneous syndactyly Osteolysis Microretrognathia Diabetes mellitus Febrile seizures Respiratory failure Premature birth Tachypnea Abnormal palate morphology Azoospermia Bone marrow hypocellularity Leukodystrophy Short toe Sinusitis Short thumb Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Microdontia Decreased antibody level in blood Postural instability Hand polydactyly Cerebral atrophy Hypopnea Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Spasticity Immunodeficiency Recurrent infections Microcornea Skin rash Finger syndactyly Hip dislocation Toe syndactyly Talipes Tachycardia Schizophrenia Heart murmur Psychotic episodes Toe clinodactyly Abnormality of the head Long hallux Urethral stenosis Central hypothyroidism Macular hypoplasia Giant platelets Abnormality of the anus Broad columella Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Megakaryocyte dysplasia Nasolacrimal duct obstruction Abnormal thrombocyte morphology Hammertoe Retinal dysplasia Aplasia/Hypoplasia of the eyebrow Slender finger Transposition of the great arteries Wheezing Abnormal eyelash morphology Double outlet right ventricle Chronic constipation Labial hypoplasia Eyelid coloboma Duodenal atresia Mitral stenosis Broad hallux phalanx Nuclear cataract Aplasia/Hypoplasia of the earlobes Narrow palm Hypoplastic labia minora Photophobia Increased body weight Decreased fetal movement Type II diabetes mellitus Primary amenorrhea Clumsiness Insulin resistance Bradycardia Narrow palpebral fissure Amenorrhea Sleep apnea Scrotal hypoplasia Precocious puberty Hyperinsulinemia Radial deviation of finger Emotional lability Abnormality of the cardiovascular system Abnormal location of ears Inflammation of the large intestine Short palm Stroke Pruritus Carious teeth Genu valgum Infertility Polymicrogyria Downturned corners of mouth Gastrointestinal hemorrhage Small hand Short foot Sleep disturbance Hypopigmentation of the skin Sepsis Full cheeks Large hands Glucose intolerance Central adrenal insufficiency Abdominal obesity Hypoplasia of the fovea Chromosome breakage Ocular albinism Hypothermia Generalized hypopigmentation Cor pulmonale Poor fine motor coordination Oligomenorrhea Anteverted ears Frontal upsweep of hair Erysipelas Disseminated intravascular coagulation Triangular mouth Temperature instability Acrocyanosis Overweight Albinism Myeloid leukemia Skeletal muscle hypertrophy Adrenal insufficiency Truncal obesity External genital hypoplasia Polyphagia Narrow nasal bridge Impaired pain sensation Central hypotonia Striae distensae Pulmonary embolism Hypopigmentation of hair Hypoventilation Iris hypopigmentation Abnormality of lipid metabolism Hypoplasia of lymphatic vessels Depressed nasal ridge Puberty and gonadal disorders Shallow orbits Dandy-Walker malformation Prominent nose Vesicoureteral reflux Pulmonary hypoplasia Stereotypy Anorexia Cough Narrow face Abnormality of the kidney Umbilical hernia Rod-cone dystrophy Sandal gap Broad face Recurrent urinary tract infections Six lumbar vertebrae Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Absent earlobe Cerebellar vermis hypoplasia Cardiac arrest Forearm undergrowth Bilateral cleft lip and palate Absent gallbladder Metopic synostosis Unilateral cleft lip Inspiratory stridor Ankyloglossia Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Bicornuate uterus Concave nasal ridge Enlarged cisterna magna Abnormality of the respiratory system Megalencephaly Anosmia Bilateral cleft lip Hiatus hernia Prominent metopic ridge Abnormality of the ureter Limb dystonia Weak cry Prominent occiput Rocker bottom foot Bifid scrotum Oral-pharyngeal dysphagia Stridor Recurrent upper respiratory tract infections Laryngomalacia Talipes equinovalgus Ulnar bowing Aplasia/Hypoplasia of the cerebellar vermis Third degree atrioventricular block Fatigue Respiratory insufficiency Scarring Hyperkeratosis Skeletal muscle atrophy Protruding ear Chest pain Syncope Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Delayed menarche Congenital diaphragmatic hernia Parietal bossing Limited elbow movement Abnormal aortic valve morphology Hyposmia Angina pectoris Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Unilateral renal agenesis Overgrowth Pterygium Myocardial infarction Nevus Blue sclerae Dermal translucency Atrophic scars Long toe Poor wound healing Small face Generalized osteoporosis Varicose veins Progeroid facial appearance Mild global developmental delay Periodontitis Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Bowing of the legs Sparse scalp hair Elbow dislocation Sparse eyebrow Lipodystrophy Hyperextensible skin Cutis laxa Sparse eyelashes Accelerated skeletal maturation Joint dislocation Coxa valga Elbow flexion contracture Sparse and thin eyebrow Bowing of the long bones Thin skin Cranial asymmetry Hoarse cry Neurofibrosarcoma Decreased body weight Aortic root aneurysm Thoracic scoliosis Male infertility Abnormality of digit Cystic hygroma Prolonged bleeding time Abnormality of coagulation Myopathic facies Melanocytic nevus Coarse hair Arnold-Chiari malformation Abnormal dermatoglyphics Mitral valve prolapse Abnormality of the mouth Tetralogy of Fallot Delayed skeletal maturation Dysarthria Hepatomegaly Muscle weakness Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary artery stenosis Thickened nuchal skin fold Broad toe Abnormal hair quantity Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Reduced factor XI activity Abnormal platelet function Reduced factor VIII activity Abnormal pulmonary valve morphology Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Abnormality of the lymphatic system Synovitis Enlarged thorax Acute leukemia Abnormality of the pulmonary artery Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Thickened helices Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix Abnormality of the testis High anterior hairline Premature skin wrinkling Monocytosis Hypochromic microcytic anemia Hypoplasia of the epiglottis Short palpebral fissure Protruding tongue Long palpebral fissure Abnormality of the sternum Aggressive behavior Redundant skin Abnormality of the outer ear Lissencephaly Pointed chin Low anterior hairline Postnatal microcephaly Heterotopia Hypertrichosis High myopia Inverted nipples Short philtrum Wide nose Arthrogryposis multiplex congenita Wide mouth Joint stiffness Abnormality of metabolism/homeostasis Absent pulmonary artery Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Esophageal atresia Depressed nasal tip B-cell lymphoma Epistaxis Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Proximal placement of thumb Cholelithiasis Deep philtrum Torticollis Vasculitis Bilateral single transverse palmar creases Hydrops fetalis Hyperpigmentation of the skin Cyanosis Retinal coloboma Ascites Falls Astigmatism Abnormality of the foot Gait ataxia Splenomegaly Respiratory distress Small posterior fossa Duplication of phalanx of hallux Anxiety Small thenar eminence Facial edema Congenital ptosis Abnormality of the curvature of the vertebral column



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hydrocephalus and Stage 5 chronic kidney disease, related diseases and genetic alterations Epicanthus and Distal amyotrophy, related diseases and genetic alterations High palate and Poor speech, related diseases and genetic alterations Low-set ears and Dilated cardiomyopathy, related diseases and genetic alterations Obesity and Amyotrophic lateral sclerosis, related diseases and genetic alterations Cleft palate and Congenital muscular dystrophy, related diseases and genetic alterations Melanoma and Neonatal hypotonia, related diseases and genetic alterations

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