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:
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 SYNDROME
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 TYPE
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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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
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 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 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 SYNDROME
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 DISEASE
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
SOURCES:
OMIM
MESH
MENDELIAN
More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10
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). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.
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
SOURCES:
OMIM
MENDELIAN
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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