Cryptorchidism, and Coronary artery atherosclerosis

Diseases related with Cryptorchidism and Coronary artery atherosclerosis

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Coronary artery atherosclerosis that can help you solving undiagnosed cases.


Top matches:

Medium match OGDEN SYNDROME


Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

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Other less relevant matches:

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Medium 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

Low match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Low match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Low match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low 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

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Coronary artery atherosclerosis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Coronary artery atherosclerosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Inguinal hernia Arterial stenosis Atrial septal defect Protruding ear Dilatation Intrauterine growth retardation Hypertelorism Generalized hypotonia Strabismus Abnormal facial shape Micropenis Redundant skin Micrognathia Pulmonary artery stenosis Cataract Umbilical hernia Seizures Hypospadias Sensorineural hearing impairment Ptosis Joint hyperflexibility Congestive heart failure Pulmonic stenosis Bladder diverticulum Cutis laxa Arrhythmia Depressed nasal bridge Macrotia Abnormality of the dentition Epicanthus Ventricular septal defect Hernia Coarctation of aorta Tetralogy of Fallot Hypopigmentation of the skin Renovascular hypertension Macrocephaly Cerebral atrophy Behavioral abnormality Pain Renal artery stenosis Hypertonia Hypodontia Coarse facial features Respiratory distress Aplasia/Hypoplasia of the eyebrow Prematurely aged appearance Joint laxity Hip dislocation Neoplasm Low-set ears Full cheeks Vesicoureteral reflux Renal insufficiency Intellectual disability, mild Abnormality of the skeletal system Scoliosis Osteoporosis Spina bifida occulta Feeding difficulties Spasticity Deeply set eye Cleft palate Malabsorption Autistic behavior Sparse hair Hydrocephalus Kyphosis High, narrow palate Carious teeth Abnormality of skin pigmentation Thin vermilion border Delayed skeletal maturation Proptosis Dysarthria Hepatomegaly Hypertrophic cardiomyopathy Flexion contracture Abnormality of the face Abnormal heart morphology Shock Muscular hypotonia

Rare Symptoms - Less than 30% cases


Abnormality of the urinary system Abnormality of cardiovascular system morphology Prolonged neonatal jaundice Coronary artery aneurysm Mitral valve prolapse Short chin Gingival overgrowth Glaucoma Respiratory insufficiency Microdontia Cognitive impairment Alopecia Narrow mouth Gingival recession Periorbital edema Telangiectasia of the skin Normal pressure hydrocephalus Abnormality of lipid metabolism Atypical scarring of skin Aplasia/Hypoplasia of the abdominal wall musculature Keratoconus Dilatation of the cerebral artery Abnormal carotid artery morphology Abnormal pupil morphology Premature birth Colonic diverticula Premature loss of primary teeth Flat face Delayed puberty Myopia Proteinuria Small nail Abnormality of pelvic girdle bone morphology Abnormality of dental morphology Severe hearing impairment Abnormality of the neck Increased nuchal translucency Ataxia Tremor Gait disturbance Mandibular prognathia Hypermetropia Abnormal cardiac septum morphology Dental malocclusion Delayed speech and language development Depressivity Patent ductus arteriosus Kyphoscoliosis Chest pain Myocardial infarction Mitral regurgitation Aortic valve stenosis Unilateral renal agenesis Subvalvular aortic stenosis Cardiomegaly Abnormality of the pinna Clinodactyly of the 5th finger Triangular face Upslanted palpebral fissure Conductive hearing impairment Abnormality of the kidney Craniosynostosis Scarring Retinopathy Stroke Short philtrum Broad forehead Sparse scalp hair Pigmentary retinopathy Irritability Renal hypoplasia Abnormal form of the vertebral bodies Pointed chin Hemivertebrae Portal hypertension Vertebral segmentation defect Posterior embryotoxon Abnormality of the vasculature Cardiomyopathy Cerebellar hypoplasia High forehead Joint dislocation Peripheral pulmonary artery stenosis Hypothyroidism Intellectual disability, severe Narrow forehead Postnatal growth retardation Dry skin Nausea and vomiting Severe global developmental delay Feeding difficulties in infancy Developmental regression Jaundice Brachycephaly Wide nasal bridge Dementia Fine hair Fatigue Aortic aneurysm Muscle weakness Sparse and thin eyebrow Midface retrusion Supravalvular aortic stenosis Ascending tubular aorta aneurysm Prominent forehead Vascular tortuosity Coarse hair Neonatal hypotonia Thin upper lip vermilion Dermal translucency Delayed cranial suture closure Pectus carinatum High palate Wormian bones Gastrointestinal hemorrhage Downslanted palpebral fissures Recurrent urinary tract infections Arthralgia Recurrent respiratory infections Recurrent fractures Overgrowth Frontal bossing Ventriculomegaly Autism Gastroesophageal reflux Anxiety Osteopenia Pes planus Abdominal pain Thick lower lip vermilion Cleft lip Intellectual disability, moderate Cerebral cortical atrophy Hemiparesis Diabetes mellitus Constipation Hyperlordosis Elevated serum creatine phosphokinase Encephalopathy Recurrent otitis media Obesity Open mouth Absent speech Malar flattening Involuntary movements Nephrolithiasis Amblyopia Long philtrum Low-set, posteriorly rotated ears Wide mouth Paralysis Hypoplasia of penis Recurrent infections Esotropia Otitis media Sudden cardiac death Macroglossia Broad nasal tip Postural instability Renal agenesis Sleep disturbance Dehydration Abnormality of the cardiovascular system Everted lower lip vermilion Hypotelorism Short nose Joint stiffness Abnormality of extrapyramidal motor function Hypsarrhythmia Oral cleft Dysmetria Type II diabetes mellitus Smooth philtrum Ventricular hypertrophy Genu valgum Neurological speech impairment Corneal opacity Small for gestational age Attention deficit hyperactivity disorder Blepharophimosis Thick vermilion border Peripheral dysmyelination Myopathy Abnormality of the foot Highly arched eyebrow Nystagmus Optic atrophy Small hand Tachycardia Splenomegaly Severe short stature Aplasia/hypoplasia of the 1st metatarsal Hypogonadism Lethargy Polyneuropathy Limitation of joint mobility Muscular hypotonia of the trunk Peripheral demyelination Aplasia of the distal phalanx of the hallux Aplasia of the distal phalanges of the hand Cutaneous photosensitivity Shortening of all distal phalanges of the toes Broad secondary alveolar ridge Absent sternal ossification Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Aplasia of the 1st metacarpal Short proximal phalanx of hallux Aplasia/Hypoplasia of the proximal phalanx of the hallux Abnormal pelvis bone morphology Tapered toe Abnormal parietal bone morphology Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Narrow nasal base Cerebral calcification Anorexia Hyperreflexia Severe photosensitivity Abnormal auditory evoked potentials Delayed eruption of primary teeth Retinal pigment epithelial mottling Chorioretinitis Decreased lacrimation Loss of facial adipose tissue Increased cellular sensitivity to UV light Hypoplasia of teeth Slender nose Square pelvis bone Narrow face Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter Thymic hormone decreased Visual impairment CNS demyelination Menstrual irregularities Leukodystrophy Anhidrosis Knee flexion contracture Opacification of the corneal stroma Atherosclerosis Neoplasm of the skin Decreased nerve conduction velocity Large hands Reduced subcutaneous adipose tissue Dry hair Thickened calvaria Basal ganglia calcification Abnormality of visual evoked potentials Severe postnatal growth retardation Progeroid facial appearance Hypoplastic iliac wing Hypoplastic pelvis Hoarse voice Progressive neurologic deterioration Increased bone mineral density Calcification of the aorta Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Flat cornea Impaired visuospatial constructive cognition Unilateral renal hypoplasia Hyperacusis Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Pelvic kidney Retinal arteriolar tortuosity Nystagmus-induced head nodding Renal duplication Urethral stenosis Abnormal glucose tolerance Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Abnormality of the ankles Coronary artery stenosis Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Thyroid hemiagenesis Overfriendliness Phonophobia Abnormal mitral valve morphology Bundle branch block Multiple cafe-au-lait spots Heart block Missing ribs Angina pectoris Hyposmia Abnormal aortic valve morphology Cubitus valgus Limited elbow movement Multiple lentigines Parietal bossing Delayed menarche Third degree atrioventricular block Hypoplasia of the ovary Numerous nevi Bilateral cryptorchidism Pterygium Early onset of sexual maturation Short neck Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Posteriorly rotated ears Mutism Hyperkeratosis Syncope Webbed neck Depressed nasal ridge Abnormality of the genital system Cafe-au-lait spot Scapular winging Parathyroid hyperplasia Abnormality of nervous system morphology Increased body weight Abnormality of the voice Hypercalciuria Cholelithiasis Hypercalcemia Failure to thrive in infancy Radioulnar synostosis Precocious puberty Nephritis Polycystic ovaries Chronic otitis media Obsessive-compulsive behavior Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Polyuria Dysphonia Incoordination Open bite Widely spaced teeth Hypogonadotrophic hypogonadism Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Abnormal dermatoglyphics Progressive hearing impairment Bicuspid aortic valve Adducted thumb Sacral dimple Ischemic stroke Abnormality of the scapula Infantile muscular hypotonia Schizophrenia Arnold-Chiari malformation Reduced bone mineral density Loss of consciousness Hallux valgus Dysgraphia Abnormality of refraction Large earlobe Abnormality of the cerebral vasculature Enuresis Villous atrophy Dyslexia Cerebral ischemia Gait imbalance Right ventricular hypertrophy Periorbital fullness Decreased plasma carnitine Abnormal renal morphology Lacrimation abnormality Cystic renal dysplasia Peptic ulcer Rectal prolapse Tubulointerstitial nephritis Chronic constipation Premature graying of hair Arnold-Chiari type I malformation Celiac disease High hypermetropia Facial cleft Restlessness Insomnia Megalocornea Nevus flammeus Hypoplasia of the zygomatic bone Soft skin Poor coordination Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Generalized hypotrichosis Small earlobe Aplasia/Hypoplasia of the clavicles Abnormal oral frenulum morphology Ileus Cor pulmonale Ocular pain Abnormality of hair texture Excessive wrinkled skin Gastrointestinal infarctions Abnormality of the gingiva Aplasia/Hypoplasia of the earlobes Atelectasis Internal hemorrhage Arterial dissection Cigarette-paper scars Arteriovenous fistula Absent earlobe Pneumothorax Reduced consciousness/confusion Peripheral arteriovenous fistula Narrow nose Esophageal atresia Sprengel anomaly Premature loss of teeth Alopecia of scalp Subarachnoid hemorrhage Abnormal eyelash morphology Transient ischemic attack Osteolytic defects of the phalanges of the hand Gingivitis Aortic dissection Periodontitis Abnormally large globe Hematochezia Varicose veins Premature skin wrinkling Shawl scrotum Scleroderma Arachnodactyly Visual loss Areflexia Hemolytic anemia Acidosis Hepatosplenomegaly Elevated hepatic transaminase Carcinoma Oligohydramnios Abnormality of the liver Anemia Facial wrinkling Enlarged naris Minimal subcutaneous fat Pruritus Clinodactyly Congenital diaphragmatic hernia Pulmonary artery aneurysm Uterine rupture Progressive sensorineural hearing impairment Emphysema Molluscoid pseudotumors Spontaneous pneumothorax Foot acroosteolysis Arterial rupture Uterine prolapse Bilateral sensorineural hearing impairment Arteriovenous fistulas of celiac and mesenteric vessels Hypoplastic lacrimal duct Cystocele Premature delivery because of cervical insufficiency or membrane fragility Hemothorax Hypermobility of distal interphalangeal joints Epiphyseal dysplasia Hemoptysis Abnormal joint morphology Anal atresia Chorea Generalized-onset seizure Exostoses Hypothermia Woolly hair Pili torti Chondrocalcinosis Trichorrhexis nodosa Intellectual disability, profound Venous insufficiency Spontaneous hematomas Multiple joint dislocation Hypocupremia Sepsis Metaphyseal spurs Hypopigmentation of hair Tarsal synostosis Neurodegeneration Abnormal palate morphology Abnormality of the metaphysis Bowing of the long bones Chronic diarrhea Thickened skin Tetraparesis Spastic tetraparesis Hyperextensible skin Prominent occiput Intracranial hemorrhage Metaphyseal widening Mask-like facies Cerebral hemorrhage Myopathic facies Osteomyelitis Opisthotonus Therapeutic abortion Narrow chest Fragile skin Tinnitus Cardiac arrest Congenital hip dislocation Arterial fibromuscular dysplasia Osteolysis Abnormal intestine morphology Sleep apnea Hypokalemia Telangiectasia Rheumatoid arthritis Melanocytic nevus Macule Narrow nasal bridge Congenital hemolytic anemia Abnormal heart valve morphology Bowel diverticulosis Subcutaneous nodule Talipes equinovarus Joint hypermobility Hypoglycemia Arthritis Telecanthus Diarrhea Vertigo Cerebellar atrophy Bruising susceptibility Thin skin Abnormal bleeding Motor delay Migraine Abnormality of the skin Renal diverticulum Blue sclerae Osteoarthritis Abnormality of the forehead Stage 5 chronic kidney disease Hypoplastic facial bones Sparse eyelashes Large fontanelles Short phalanx of finger Hydrops fetalis Short thumb Short toe Short ribs Tented upper lip vermilion Stereotypy Long eyelashes Pyloric stenosis Sparse eyebrow Clitoral hypertrophy Absent eyebrow Rocker bottom foot Pachygyria Cerebellar vermis hypoplasia Metatarsus adductus Low anterior hairline Delayed gross motor development Polyhydramnios Scrotal hypoplasia Ventricular tachycardia Torticollis Microretrognathia Microtia Pulmonary arterial hypertension Dolichocephaly Hypotrichosis Toe syndactyly Single transverse palmar crease Tapered finger Dandy-Walker malformation Neuronal loss in central nervous system Short middle phalanx of finger Flared metaphysis Deep philtrum Underdeveloped nasal alae Bilateral microphthalmos Choreoathetosis Aplastic clavicle Congenital microcephaly Arrhinencephaly Wide cranial sutures Short upper lip Aplasia/Hypoplasia of the nipples Generalized neonatal hypotonia Aplasia/Hypoplasia of the middle phalanges of the hand Multiple skeletal anomalies Hypoplasia of the frontal lobes Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Absent nipple Redundant neck skin Anonychia Short clavicles Short finger Absent thumb Abnormality of digit Thin ribs Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the thumb Inverted nipples Waddling gait Glossoptosis Severe failure to thrive Sclerocornea Abnormality of finger Hypoplastic labia majora Hypoplastic scapulae Decreased skull ossification Agenesis of corpus callosum Microphthalmia Cirrhosis Supraventricular tachycardia Lymphedema Abnormal vertebral morphology Unilateral cryptorchidism Torsade de pointes Multicystic kidney dysplasia Finger clinodactyly Hypercholesterolemia Renal dysplasia Corneal dystrophy Renal hypoplasia/aplasia Thick upper lip vermilion Glomerulosclerosis Heart murmur Hypoplasia of the ulna Exotropia Acetabular dysplasia Shuffling gait Prominent nose Hepatic failure Short distal phalanx of finger Microcornea Abnormal head movements Cardiogenic shock Round face Specific learning disability Cholestasis Abnormality of the nares Capillary malformation Abnormality of the ribs Premature coronary artery atherosclerosis Nephrotic syndrome Everted upper lip vermilion Hypertriglyceridemia Malnutrition Chorioretinal atrophy Syndactyly Unicoronal synostosis Axenfeld anomaly Vitamin D deficiency Poor eye contact Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Rectourethral fistula Band keratopathy Reduced number of intrahepatic bile ducts Butterfly vertebral arch Anteverted nares Hypoplasia of the corpus callosum Broad hallux Edema Papillary thyroid carcinoma Biliary atresia Long nose Coronal craniosynostosis Renal tubular acidosis Abnormality of the ureter Excessive daytime somnolence Exocrine pancreatic insufficiency Hepatocellular carcinoma Ventricular extrasystoles Intrahepatic cholestasis Abnormal anterior chamber morphology Peripheral arterial stenosis Cholestatic liver disease Thyroid carcinoma Short columella Fat malabsorption Hypopigmentation of the fundus Butterfly vertebrae Aplasia of the ovary



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