Cardiomyopathy, and Microtia
Diseases related with Cardiomyopathy and Microtia
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Microtia that can help you solving undiagnosed cases.
Top matches:
Low match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro
Related symptoms:
- Intellectual disability
- Short stature
- Scoliosis
- Cryptorchidism
- Ptosis
SOURCES: OMIM ORPHANET MENDELIAN
More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROMELow match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPELow match MYHRE SYNDROME
Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about MYHRE SYNDROME
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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 SYNDROMELow match HUTCHINSON-GILFORD PROGERIA SYNDROME
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
SOURCES: OMIM ORPHANET MENDELIAN
More info about HUTCHINSON-GILFORD PROGERIA SYNDROMELow match 1P36 DELETION SYNDROME
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about 1P36 DELETION SYNDROMELow match TORIELLO-CAREY SYNDROME
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about TORIELLO-CAREY SYNDROMELow match FETAL GAUCHER DISEASE
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).
FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type
Related symptoms:
- Seizures
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Micrognathia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about FETAL GAUCHER DISEASELow match DIAMOND-BLACKFAN ANEMIA 10; DBA10
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).
Related symptoms:
- Short stature
- Hearing impairment
- Growth delay
- Failure to thrive
- Micrognathia
More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10
Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs
Related symptoms:
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Cleft palate
- Macrocephaly
More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
Top 5 symptoms//phenotypes associated to Cardiomyopathy and Microtia
| Symptoms // Phenotype | % cases |
|---|---|
| Hearing impairment | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Low-set ears | Common - Between 50% and 80% cases |
| Abnormal facial shape | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Cardiomyopathy and Microtia. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Growth delay
Uncommon Symptoms - Between 30% and 50% cases
Cleft palate
Common Symptoms - More than 50% cases
Microcephaly
Uncommon Symptoms - Between 30% and 50% cases
Narrow mouth
Common Symptoms - More than 50% cases
Ventricular septal defect
Uncommon Symptoms - Between 30% and 50% cases
Short stature
Common Symptoms - More than 50% cases
Intrauterine growth retardation
Uncommon Symptoms - Between 30% and 50% cases
Cryptorchidism Hypertelorism Abnormality of the pinna Generalized hypotonia Depressed nasal bridge Abnormality of the skeletal system Conductive hearing impairment Respiratory distress Global developmental delay Macrocephaly Abnormal heart morphology Postnatal growth retardation Malar flattening Midface retrusion Abnormality of cardiovascular system morphology Cataract Hypospadias Sensorineural hearing impairment Patent ductus arteriosus Blepharophimosis Atrial septal defect Failure to thrive High palate Scoliosis Thin vermilion border Cardiomegaly Hypogonadism Dilated cardiomyopathy Flexion contracture Ptosis Abnormal cardiac septum morphology Anteverted nares Muscular hypotonia Intestinal malrotation Thin upper lip vermilion Posteriorly rotated ears Microphthalmia Large fontanelles Pachygyria Agenesis of corpus callosum Short neck Seizures Sparse hair Hypoplasia of the corpus callosum Ventriculomegaly Short nose Proptosis Narrow palpebral fissure Abnormality of the ribs Hypermetropia Joint stiffness Strabismus Camptodactyly Syndactyly Hydrocephalus Respiratory insufficiency Polyhydramnios Brachydactyly Hypertension Clinodactyly Redundant neck skin Retrognathia Short clavicles Feeding difficulties Delayed speech and language development Dysphagia Micropenis
Rare Symptoms - Less than 30% cases
Abnormality of the cardiovascular system Coarctation of aorta High, narrow palate Short palpebral fissure Choanal atresia Bifid uvula Hypotrichosis Thickened skin Hernia Short toe Aortic valve stenosis Limitation of joint mobility Motor delay Hypodontia Relative macrocephaly Intracranial hemorrhage Hypergonadotropic hypogonadism Abnormality of the genitourinary system Abnormality of the neck Telangiectasia Short philtrum Small for gestational age Hip dislocation Hypercholesterolemia Abnormality of the genital system Wide anterior fontanel Oral cleft Mitral regurgitation Premature birth Short palm Amenorrhea Hypertrophic cardiomyopathy Decreased body weight Prominent forehead Neonatal respiratory distress Abnormal parietal bone morphology Full cheeks Anteriorly placed anus Cleft soft palate Abnormality of the larynx Extramedullary hematopoiesis Hepatomegaly Skeletal muscle atrophy Kyphosis Abnormality of the skin Anemia Delayed puberty Tracheal stenosis Osteopenia Intellectual disability, mild Edema Submucous cleft hard palate Jaundice Cerebellar hypoplasia Narrow chest Convex nasal ridge Hepatic steatosis High hypermetropia Vertebral fusion Short finger Upslanted palpebral fissure Osteoporosis Macrotia Depressed nasal ridge Tetralogy of Fallot Increased bone mineral density Short chin Scrotal hypoplasia Abnormality of the testis Sparse and thin eyebrow Sparse eyelashes Hypoplastic facial bones Deeply set eye Abnormality of the spleen Clitoral hypertrophy Congenital hypothyroidism Rocker bottom foot Heart murmur Cleft upper lip Hydrops fetalis Metatarsus adductus Delayed myelination Abnormality of the liver Thin ribs Aplastic clavicle Hypothyroidism Neonatal hypotonia Abnormality of the dentition Low-set, posteriorly rotated ears Talipes equinovarus Epicanthus Down-sloping shoulders Pyloric stenosis Scleroderma Premature ovarian insufficiency Mandibular prognathia Autism Respiratory failure Multiple joint contractures Cerebellar vermis hypoplasia Constipation Interphalangeal joint contracture of finger Downslanted palpebral fissures Lipodystrophy Obesity Precocious puberty Congestive heart failure Small nail Oligohydramnios Short phalanx of finger Behavioral abnormality Wide nasal bridge Bilateral cryptorchidism Lower limb asymmetry Nystagmus Optic nerve coloboma Abnormality of the gastrointestinal tract Abnormal corpus callosum morphology Overweight Impaired social interactions Lambdoidal craniosynostosis Coronal craniosynostosis Muscle weakness Short 5th finger Cognitive impairment Abnormality of female external genitalia Dilation of lateral ventricles Abnormality of the mandible Periventricular leukomalacia Self-mutilation Cavum septum pellucidum Volvulus Left ventricular noncompaction Delayed closure of the anterior fontanelle Arnold-Chiari type I malformation Tapering pointed ends of distal finger phalanges Rib fusion 11 pairs of ribs Hiatus hernia Thickened helices Missing ribs Abnormal eyebrow morphology Ocular albinism Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Biliary tract abnormality Abnormality of chromosome stability Delayed CNS myelination Hand polydactyly Epileptic spasms Delayed skeletal maturation Pes cavus Hip dysplasia Epileptic encephalopathy Abnormal blistering of the skin Clinodactyly of the 5th finger Hypoplasia of penis Absent speech Renal cyst Cerebral atrophy Long philtrum Myopathy Optic disc pallor Frontal bossing Hypsarrhythmia Gait disturbance Brain atrophy Short foot Ventricular hypertrophy Feeding difficulties in infancy Abnormality of the kidney Aggressive behavior Hydronephrosis EEG abnormality Gastroesophageal reflux Abnormality of the eye Cerebral cortical atrophy Polymicrogyria Brachycephaly Coloboma Camptodactyly of finger Neurological speech impairment Abnormality of the cerebral white matter Synophrys Poor speech Optic atrophy Tetraparesis Abnormal lung lobation Abnormal heart valve morphology Delayed cranial suture closure Dysphasia Hypermelanotic macule Polyphagia Macule Infantile spasms Abnormality of the immune system Congenital sensorineural hearing impairment Absent septum pellucidum Telangiectasia of the skin Slender long bone Neuroblastoma Aortic root aneurysm Spinal canal stenosis Foot polydactyly Hemiplegia/hemiparesis Self-injurious behavior Myopia Cranial nerve paralysis Hypertrichosis Stereotypy Pointed chin Generalized hirsutism Spastic tetraparesis Abnormal intestine morphology Visual impairment Leukoencephalopathy Failure to thrive in infancy Bicuspid aortic valve Aplasia/Hypoplasia of the corpus callosum Sacral dimple Infantile muscular hypotonia Delayed gross motor development Abnormality of vision Patent foramen ovale Heterotopia Tracheomalacia Gastric ulcer Everted upper lip vermilion Fetal akinesia sequence Nonimmune hydrops fetalis Overlapping fingers Congenital nonbullous ichthyosiform erythroderma Astrocytosis Pneumothorax Generalized hyperkeratosis Distal arthrogryposis Severe hydrops fetalis Abnormality of the spinal cord Hepatic necrosis Myocardial necrosis Desquamation of skin soon after birth Sudden episodic apnea Cardiorespiratory arrest Congenital ichthyosiform erythroderma Abnormal pupillary function Congenital contracture Open mouth Abnormality of the face Knee flexion contracture Purpura Poor suck Ectropion Pleural effusion Hypokinesia Apathy Akinesia Thoracic hypoplasia Abnormality of coagulation Opisthotonus Petechiae Decreased beta-glucocerebrosidase protein and activity Abnormality of the small intestine Pancytopenia Congenital muscular torticollis Sprengel anomaly External ear malformation Fused cervical vertebrae Stiff neck Bimanual synkinesia Posterior fossa cyst Abnormal vertebral segmentation and fusion Unilateral renal agenesis Cervical C2/C3 vertebral fusion Moderate hearing impairment Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Mixed hearing impairment Low posterior hairline Low voltage EEG Ectopic kidney Hydropic placenta Abnormality of the microglia Enlarged fetal cisterna magna Mild fetal ventriculomegaly Congenital diaphragmatic hernia Atresia of the external auditory canal Macrocytic anemia Otitis media Broad neck Increased mean corpuscular volume Reticulocytopenia Mandibulofacial dysostosis Facial asymmetry Webbed neck Progressive neurologic deterioration Decreased fetal movement Abnormality of the anus Hyperplastic labia majora Ebstein anomaly of the tricuspid valve Abnormality of the femoral neck Widened subarachnoid space Bilobate gallbladder Congenital talipes calcaneovalgus Aplasia/Hypoplasia involving bones of the feet Abnormality of the cerebral ventricles Hypoplastic female external genitalia Abnormality of the renal pelvis Solitary renal cyst Agenesis of the anterior commissure Vomiting Dilatation Telecanthus Bifid ribs Abnormality of the hairline Hirsutism Hypoplastic labia minora Abnormality of the optic disc Expressive language delay Abnormality of brain morphology Aortic arch aneurysm Annular pancreas Muscle flaccidity Horizontal eyebrow Oppositional defiant disorder Abnormal external genitalia Talipes valgus Abnormal social behavior Cranial nerve VI palsy Noncompaction cardiomyopathy Asymmetry of the ears Pulmonic stenosis Downturned corners of mouth Cerebral calcification Hepatic failure Elevated hepatic transaminase Apnea Developmental regression Arthrogryposis multiplex congenita Abnormality of eye movement Ichthyosis Pulmonary hypoplasia Hyperkeratosis Everted lower lip vermilion Metabolic acidosis Ascites Triangular face Abnormal bleeding Underdeveloped nasal alae Hepatosplenomegaly Thrombocytopenia Postural instability Pierre-Robin sequence Abdominal distention Microretrognathia Proximal placement of thumb Hypoplastic left heart Regional abnormality of skin Double outlet right ventricle Entropion Splenomegaly Endocardial fibroelastosis Anotia Bronchomalacia Laryngeal hypoplasia Spasticity Hyperreflexia Hypertonia Arteriosclerosis of small cerebral arteries Infertility Abnormal trabecular bone morphology Irregular vertebral endplates Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Restrictive cardiomyopathy Broad ribs Hypoplastic iliac wing Chronic constipation Oligomenorrhea Wheezing Pseudopapilledema 2-3 toe syndactyly Cone-shaped epiphysis Stridor Oral-pharyngeal dysphagia Radial deviation of finger Skeletal muscle hypertrophy Overlapping toe Blurred vision Pericarditis External genital hypoplasia Pericardial effusion Abnormal joint morphology Thickened calvaria Keratoconus Arthropathy Stiff skin Esophageal stenosis Short long bone Hypopigmentation of the skin Flared metaphysis Short middle phalanx of finger Absent eyebrow Abnormality of dental morphology Sparse eyebrow Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Short ribs Short thumb Sparse scalp hair Pulmonary arterial hypertension Neuronal loss in central nervous system Dandy-Walker malformation Tapered finger Large iliac wings Gingival cleft Pear-shaped nose Constrictive pericarditis Abnormality of the pubic bone Generalized muscle hypertrophy Laryngotracheal stenosis Enlarged vertebral pedicles Hypoplasia of eyelid Single transverse palmar crease High forehead Irritability Protruding ear Severe global developmental delay Dolichocephaly Toe syndactyly Abnormality of the voice EMG abnormality Aplasia/Hypoplasia of the eyebrow Elevated circulating luteinizing hormone level Bulbous nose Talipes Joint laxity Proteinuria Intellectual disability, severe Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Myofiber disarray Puberty and gonadal disorders Primary testicular failure Sclerodactyly Testicular dysgenesis Wide nasal base Poor wound healing Abnormality of the ovary Recurrent otitis media Ventricular tachycardia Arrhythmia Arachnodactyly Tachycardia Wide nose Atrial fibrillation Spontaneous abortion Polycystic ovaries Elevated circulating follicle stimulating hormone level Bilateral ptosis Tricuspid regurgitation Secondary amenorrhea Thoracic scoliosis Poikiloderma Sparse pubic hair Microdontia Amblyopia Abnormality of epiphysis morphology Astigmatism Respiratory tract infection Autistic behavior Scarring Cough Prominent nasal bridge Platyspondyly Thick eyebrow Hyperactivity Hypoplasia of the maxilla Progressive cerebellar ataxia Specific learning disability Fine hair Abnormal lung morphology Abnormality of the metaphysis Cleft lip Severe short stature Macular degeneration Epicanthus inversus Torticollis Widely spaced teeth Abnormality of the outer ear Prominent occiput Hypoplasia of teeth Patellar hypoplasia Abnormal palmar dermatoglyphics Recurrent respiratory infections Neonatal asphyxia Multiple bladder diverticula Ataxia Cerebellar atrophy Recurrent infections Inguinal hernia Anonychia Absent thumb Insulin-resistant diabetes mellitus at puberty Premature graying of hair Ovoid vertebral bodies Hyperphosphatemia Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Lipoatrophy Exertional dyspnea Prolonged QT interval High pitched voice Prominent superficial veins Osteolysis Hypohidrosis Insulin resistance Aspiration Hypogonadotrophic hypogonadism Coxa valga Aminoaciduria Atherosclerosis Abnormality of the thorax Hyperlipidemia Acanthosis nigricans Dermal atrophy Nasal speech Hyperinsulinemia Metaphyseal widening Osteolytic defects of the phalanges of the hand Angina pectoris Left ventricular hypertrophy Sinus tachycardia Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Decreased testosterone in males Lack of skin elasticity Decreased serum estradiol Generalized osteoporosis Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Enlarged joints Thin bony cortex Prolonged prothrombin time Premature coronary artery atherosclerosis Carcinoid tumor Arteriosclerosis Narrow nasal ridge Hip pain Absence of subcutaneous fat Thin nail Dental crowding Broad-based gait Abnormality of digit Congenital microcephaly Gingival recession Aplasia/Hypoplasia of the clavicles Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Small earlobe Generalized hypotrichosis Sclerocornea Severe hearing impairment Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the thumb Inverted nipples Glossoptosis Severe failure to thrive Abnormality of finger Bilateral microphthalmos Hypoplastic labia majora Hypoplastic scapulae Decreased skull ossification Aplasia/Hypoplasia of the nipples Absent nipple Premature loss of primary teeth Abnormality of the scapula Broad secondary alveolar ridge Thin skin Delayed eruption of teeth Alopecia Dementia Dyspnea Carcinoma Stroke Carious teeth Chest pain Neoplasm Growth hormone deficiency Nail dysplasia Cyanosis Myocardial infarction Hypertriglyceridemia Osteoarthritis Pain Aplasia of the distal phalanx of the hallux Absent sternal ossification Abnormal pelvis bone morphology Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Aplasia of the 1st metacarpal Shortening of all distal phalanges of the toes Short proximal phalanx of hallux Tapered toe Aplasia/hypoplasia of the 1st metatarsal Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Narrow nasal base Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasia of the distal phalanges of the hand Cervicomedullary schisis
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