Breast carcinoma, and Genu valgum
Diseases related with Breast carcinoma and Genu valgum
In the following list you will find some of the most common rare diseases related to Breast carcinoma and Genu valgum that can help you solving undiagnosed cases.
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Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.
NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION
Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.
CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Sensorineural hearing impairment
- Abnormal facial shape
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CARPENTER SYNDROME
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Abnormal facial shape
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about CHST3-RELATED SKELETAL DYSPLASIA
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Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about EAR-PATELLA-SHORT STATURE SYNDROME
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Growth delay
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about FRANK-TER HAAR SYNDROME
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
SOURCES:
ORPHANET
MENDELIAN
More info about HURLER-SCHEIE SYNDROME
Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.
PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp
Related symptoms:
- Scoliosis
- Ptosis
- Anemia
- Hepatomegaly
- Edema
SOURCES:
ORPHANET
MENDELIAN
More info about PACHYDERMOPERIOSTOSIS
Top 5 symptoms//phenotypes associated to Breast carcinoma and Genu valgum
Symptoms // Phenotype |
% cases |
Intellectual disability |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Scoliosis |
Common - Between 50% and 80% cases
|
Abnormal facial shape |
Common - Between 50% and 80% cases
|
Abnormality of the skeletal system |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Breast carcinoma and Genu valgum. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Hearing impairment
Uncommon Symptoms - Between 30% and 50% cases
Global developmental delay
Common Symptoms - More than 50% cases
Hypertelorism
Uncommon Symptoms - Between 30% and 50% cases
Abnormality of cardiovascular system morphology
Talipes equinovarus
Anteverted nares
Kyphoscoliosis
Conductive hearing impairment
Thickened skin
High palate
Brachydactyly
Hernia
Pectus excavatum
Camptodactyly
Protruding ear
Osteopenia
Hip dysplasia
Kyphosis
Osteoporosis
Camptodactyly of finger
Growth delay
Anemia
Coarse facial features
Micrognathia
Gynecomastia
Severe short stature
Prominent nasal bridge
Cryptorchidism
Low-set ears
Talipes
Depressed nasal bridge
Joint stiffness
Wide nasal bridge
Deeply set eye
Arthralgia
Short neck
Seizures
Thick vermilion border
Clinodactyly
Brachycephaly
Delayed skeletal maturation
Retrognathia
Umbilical hernia
Broad forehead
Skeletal dysplasia
Craniosynostosis
Pectus carinatum
Osteolysis
Flexion contracture
Bone pain
Microcephaly
Abnormal form of the vertebral bodies
Microdontia
Motor delay
Aseptic necrosis
Cognitive impairment
Glaucoma
Intellectual disability, mild
Macrocephaly
Neoplasm
Delayed speech and language development
Ptosis
Rare Symptoms - Less than 30% cases
Bilateral single transverse palmar creases
Joint dislocation
Limitation of joint mobility
Widely spaced teeth
Elbow dislocation
Heart murmur
Bilateral talipes equinovarus
Thin ribs
Arthropathy
Inguinal hernia
Irregular vertebral endplates
Bowing of the long bones
Thoracic kyphosis
Splenomegaly
Shield chest
Hepatomegaly
Posterior scalloping of vertebral bodies
Cardiomyopathy
Hydrocephalus
Failure to thrive
Respiratory insufficiency
Aortic valve stenosis
Short distal phalanx of finger
Lumbar hyperlordosis
Ventricular septal defect
Wide intermamillary distance
Sparse and thin eyebrow
Narrow palate
Preaxial polydactyly
Bilateral cryptorchidism
Cutaneous finger syndactyly
Shawl scrotum
Abnormal cornea morphology
Autism
Long philtrum
Behavioral abnormality
Abnormal heart morphology
Arthritis
Microtia
Headache
Hip dislocation
Platyspondyly
Thick eyebrow
Intrauterine growth retardation
Delayed eruption of teeth
Cleft palate
Respiratory failure
Clinodactyly of the 5th finger
Dental malocclusion
Gait disturbance
Downslanted palpebral fissures
Intellectual disability, severe
Congestive heart failure
Proptosis
Visual impairment
Corneal opacity
Spinal cord compression
Hirsutism
Abnormal palate morphology
Pes cavus
Abnormality of the metacarpal bones
Sparse scalp hair
Acne
Metatarsus adductus
Nevus
Sparse hair
Macrotia
Abnormality of the dentition
Generalized hypotonia
Microphthalmia
Peripheral neuropathy
Hypogonadism
Hypoplasia of the maxilla
Finger syndactyly
Narrow mouth
High forehead
Joint laxity
Blepharophimosis
Joint hyperflexibility
Joint hypermobility
Short palm
Small hand
Abnormality of the ribs
Abnormal pyramidal sign
Thick lower lip vermilion
Knee flexion contracture
Long eyelashes
Abnormality of epiphysis morphology
Short ribs
Coxa valga
Short chin
Genu varum
Otitis media
Synophrys
Highly arched eyebrow
Tricuspid regurgitation
Malabsorption
Upslanted palpebral fissure
Specific learning disability
Midface retrusion
Back pain
Gastrointestinal hemorrhage
Frontal bossing
Polydactyly
Micropenis
Clitoral hypertrophy
Pulmonic stenosis
Mitral valve prolapse
Spina bifida
Sensorineural hearing impairment
Syndactyly
Tibial bowing
Epicanthus
Distal amyotrophy
Narrow chest
Thick upper lip vermilion
Congenital cataract
Downturned corners of mouth
Neurodegeneration
Chromosome breakage
Cor pulmonale
Stomach cancer
Babinski sign
Hypoplasia of the corpus callosum
Myopathy
Hypertonia
Malar flattening
Ovarian carcinoma
Areflexia
Agenesis of corpus callosum
Macrodontia
Duodenal stenosis
Diabetes mellitus
Gait ataxia
Hypothyroidism
Aggressive behavior
Developmental regression
Ovarian neoplasm
Clonus
Cerebral calcification
Schizophrenia
Basal ganglia calcification
Ankle clonus
Abnormal metaphyseal trabeculation
Abnormality of femoral epiphysis
Mixed hearing impairment
Truncal obesity
Anterior scalloping of vertebral bodies
Abnormality of cranial sutures
Anonychia
Melanocytic nevus
Abnormality of the glenoid fossa
Abnormality of the lumbar spine
Abnormality of glycosaminoglycan metabolism
Self-injurious behavior
Widely patent coronal suture
Proximal placement of thumb
Increased size of nasopharyngeal adenoids
Plagiocephaly
Spastic paraparesis
Contractures of the joints of the upper limbs
Abnormality of the styloid process of ulna
Abnormality of the humeral epiphysis
Paraparesis
Carcinoma
Hypopigmentation of the skin
Hypergonadotropic hypogonadism
Low anterior hairline
Skeletal muscle atrophy
Bone marrow hypocellularity
Bradykinesia
Edema
Mild postnatal growth retardation
Cataract
Vesicoureteral reflux
Redundant skin
Deep philtrum
Recurrent upper respiratory tract infections
Abnormal cortical bone morphology
Scapular winging
Exotropia
Seborrheic dermatitis
Recurrent urinary tract infections
Peptic ulcer
Growth hormone deficiency
Abnormal hair quantity
Ectodermal dysplasia
Eczematoid dermatitis
Neoplasm of the lung
Bulbous nose
Delayed puberty
Stroke
Abnormality of bone marrow cell morphology
Low-set, posteriorly rotated ears
Thin upper lip vermilion
Cutis gyrata of scalp
Ventriculomegaly
Muscular hypotonia
Clubbing of toes
Anterior concavity of thoracic vertebrae
Cortical irregularity
Abnormal hair pattern
Cone-shaped epiphysis
Ataxia
Prune belly
Redundant skin in infancy
Multiple long-bone exostoses
Scapular exostoses
Rib exostoses
Persistent cloaca
Abnormality of the skull base
Aplasia/Hypoplasia of the mandible
Absent toe
Hydrometrocolpos
Hyperhidrosis
Palmoplantar keratoderma
Abnormality of the fingernails
Multiple exostoses
Increased number of teeth
Neoplasm of the skin
Thick nasal alae
Vaginal atresia
Cerebral palsy
Avascular necrosis of the capital femoral epiphysis
Osteomyelitis
Oligospermia
Fragile nails
Joint swelling
Cone-shaped epiphyses of the phalanges of the hand
Growth hormone excess
Exostoses
Abnormality of the sella turcica
Abnormality of the breast
Abnormality of lysosomal metabolism
Aortic valve calcification
Chronic otitis media
Wide cranial sutures
Abnormal nerve conduction velocity
Coarse hair
Easy fatigability
Increased intracranial pressure
Arnold-Chiari malformation
Opacification of the corneal stroma
Abnormality of dental enamel
Peripheral edema
Corneal crystals
Abnormality of the radius
Generalized hirsutism
Carpal bone hypoplasia
Congenital hip dislocation
Abnormality of the optic disc
Elbow flexion contracture
Abnormality of the gingiva
Abnormal vertebral morphology
Abnormality of retinal pigmentation
Lower limb spasticity
Recurrent otitis media
Hip subluxation
Cardiomegaly
J-shaped sella turcica
Progressive visual loss
Mitral valve calcification
Platybasia
Abnormality of dental morphology
Asthma
Diastasis recti
Dilation of lateral ventricles
Sparse pubic hair
Sagittal craniosynostosis
Broad ribs
Nasal obstruction
Sparse axillary hair
Communicating hydrocephalus
Myelopathy
Hydrocele testis
Tracheal stenosis
Dysostosis multiplex
Abnormality of the ulna
Hypoplastic iliac wing
Chronic sinusitis
Toe walking
Obstructive sleep apnea
Papilledema
Blepharitis
Peripheral visual field loss
Protuberant abdomen
Rhinitis
Spinal canal stenosis
Hyperactive deep tendon reflexes
Abnormal diaphysis morphology
Abnormal heart valve morphology
Exertional dyspnea
Restrictive ventilatory defect
Multiple joint contractures
Heparan sulfate excretion in urine
Hernia of the abdominal wall
Sparse body hair
Broad face
Motor tics
Basilar impression
Absent axillary hair
Posterior polar cataract
Abnormal glucose tolerance
Narrow iliac wings
Ectopic calcification
Recurrent ear infections
Bone cyst
Generalized osteoporosis
Tics
Dystrophic fingernails
Progressive gait ataxia
Abnormality of mucopolysaccharide metabolism
Poor coordination
Insulin-resistant diabetes mellitus
Limited shoulder movement
Abnormality of the tonsils
Exercise-induced muscle stiffness
Dilated third ventricle
Restlessness
Flared iliac wings
Striae distensae
Small abnormally formed scapulae
Hip contracture
Congenital hypothyroidism
Short tubular bones of the hand
Torus palatinus
Absent facial hair
Macroglossia
Dolichocephaly
Sleep disturbance
Delayed menarche
Prominent coccyx
Wide nose
Retinal degeneration
Urinary glycosaminoglycan excretion
Astigmatism
Lower limb muscle weakness
Limb muscle weakness
Carious teeth
Hypermetropia
Cervical instability
Frontal hirsutism
Optic nerve compression
Increased size of the mandible
Progressive flexion contractures
Nyctalopia
Hepatosplenomegaly
Hyperkeratosis
Abdominal pain
Recurrent respiratory infections
Constipation
Thickened ribs
Diarrhea
Dermatan sulfate excretion in urine
Abnormality of the acetabulum
Superiorly displaced ears
Calcification of the auricular cartilage
Serpentine fibula
Aganglionic megacolon
Broad clavicles
Paralysis
External genital hypoplasia
Supernumerary nipple
Dextrocardia
Trigonocephaly
Cutis laxa
Coxa vara
Situs inversus totalis
Broad thumb
Postaxial hand polydactyly
Webbed neck
Postaxial polydactyly
Toe syndactyly
Autistic behavior
Attention deficit hyperactivity disorder
Hypoplastic nipples
Leukemia
Pruritus
Patent ductus arteriosus
Facial asymmetry
Paresthesia
Obesity
Peripheral axonal neuropathy
Atrial septal defect
Abnormality of skin pigmentation
Recurrent fractures
Lymphoma
Overgrowth
Tetralogy of Fallot
Abnormality of the cardiovascular system
Transposition of the great arteries
Turricephaly
Brow ptosis
Hyperlordosis
Sparse eyebrow
Delayed gross motor development
Aortic regurgitation
Spina bifida occulta
Rhizomelia
Blindness
Mitral regurgitation
Ventricular hypertrophy
Pulmonary arterial hypertension
Limb undergrowth
Waddling gait
Short metacarpal
Dilatation
Depressivity
Abnormality of the skull
Pes planus
Visual loss
Hyperactivity
Weight loss
Hypoglycemia
Hypertrophic cardiomyopathy
Abnormal reproductive system morphology
Aplasia of the middle phalanx of the hand
Narrow naris
Diaphragmatic eventration
Oxycephaly
Cloverleaf skull
Preaxial foot polydactyly
Polysplenia
Coarctation of aorta
Tibial pseudoarthrosis
Spondyloepiphyseal dysplasia
Renal cell carcinoma
Complete atrioventricular canal defect
Pheochromocytoma
Parathyroid adenoma
Aqueductal stenosis
Astrocytoma
Brain neoplasm
Myocardial fibrosis
Neoplasm of the endocrine system
Meningioma
Gangrene
Increased reactive oxygen species production
Overweight
Severe vision loss
Osteomalacia
Night sweats
Multiple cafe-au-lait spots
Freckling
Neurofibromas
Pulmonary fibrosis
Hypophosphatemia
Sensory axonal neuropathy
Precocious puberty
Sarcoma
Incoordination
Reduced bone mineral density
Venous thrombosis
Atherosclerosis
Sensorimotor neuropathy
Hypsarrhythmia
Anomalous pulmonary venous return
Paraganglioma
Cerebral artery stenosis
Single ventricle
Arterial fibromuscular dysplasia
Spinal neurofibromas
Inguinal freckling
Plexiform neurofibroma
Acute promyelocytic leukemia
Subcutaneous neurofibromas
Optic nerve glioma
Neurofibrosarcoma
Neuroma
Vestibular Schwannoma
Embryonal rhabdomyosarcoma
Axillary freckling
Renovascular hypertension
Renal artery stenosis
Pseudoarthrosis
Carcinoid tumor
Soft tissue sarcoma
Epigastric pain
Dural ectasia
Leiomyosarcoma
Fibular bowing
Gastrointestinal stroma tumor
Neoplasm of the central nervous system
Lisch nodules
Chronic myelogenous leukemia
Renal phosphate wasting
Schwannoma
Glioma
Nasolacrimal duct obstruction
Rhabdomyosarcoma
Cubitus valgus
Hypoplasia of the ulna
Multiple skeletal anomalies
Mandibular aplasia
Hypertension
Mandibular prognathia
Prominent forehead
Cafe-au-lait spot
Morgagni diaphragmatic hernia
Absent glenoid fossa
Incomplete partition of the cochlea type II
Flat glenoid fossa
Microtia, third degree
Short ear
Absent sternal ossification
Abnormality of the patella
Small anterior fontanelle
Birth length less than 3rd percentile
Wide mouth
Hypoplastic labia minora
Clitoral hypoplasia
Hyperconvex nail
Breast aplasia
Epispadias
Aplastic clavicle
Aplasia/Hypoplasia of the patella
Lateral clavicle hook
Osteochondritis Dissecans
Unilateral cryptorchidism
Breast hypoplasia
Anotia
Patellar aplasia
Breech presentation
Abnormality of the pinna
Short philtrum
Narrow nose
Congenital glaucoma
Hyperplasia of the maxilla
Broad alveolar ridges
Thoracolumbar kyphosis
Vacuolated lymphocytes
Anterior segment developmental abnormality
Buphthalmos
Concave nasal ridge
Beaking of vertebral bodies
Abnormally large globe
Genu recurvatum
Double outlet right ventricle
Premature loss of teeth
Megalocornea
Delayed cranial suture closure
Smooth philtrum
Flared metaphysis
Flat occiput
Cholelithiasis
Short long bone
Wormian bones
Pain
Wide anterior fontanel
Gingival overgrowth
Short phalanx of finger
Interphalangeal joint contracture of finger
Full cheeks
Broad nasal tip
Single transverse palmar crease
Thin vermilion border
Hypoplastic labia majora
Submucous cleft hard palate
Hallux valgus
Hypoplasia of the capital femoral epiphysis
Anisospondyly
Intervertebral space narrowing
Narrow vertebral interpedicular distance
Sclerotic vertebral endplates
Shoulder dislocation
Multiple joint dislocation
Knee dislocation
Decreased hip abduction
Abnormality of the carpal bones
Spinal deformities
Frontal upsweep of hair
Ulnar bowing
Flattened epiphysis
Coronal cleft vertebrae
Intervertebral disc degeneration
Irregular epiphyses
Small epiphyses
Enlarged joints
Disproportionate short-trunk short stature
Mitral stenosis
Short 4th metacarpal
High anterior hairline
Barrel-shaped chest
Abnormality of the elbow
Short humerus
Vertebral fusion
Limited elbow extension
Short thorax
Short femoral neck
Tricuspid stenosis
Generalized bone demineralization
Disproportionate short stature
High, narrow palate
Slender long bone
Severe hearing impairment
Emphysema
Mild short stature
Atresia of the external auditory canal
Abnormality of pelvic girdle bone morphology
Abnormality of the outer ear
Hemivertebrae
Increased body weight
Joint contracture of the hand
Thin skin
Short palpebral fissure
Hypoplasia of penis
Bifid uvula
Dysarthria
Limited hip extension
Arthrogryposis multiplex congenita
Small for gestational age
Postnatal growth retardation
Feeding difficulties in infancy
Gastroesophageal reflux
Dyspnea
Posteriorly rotated ears
Hypospadias
Respiratory distress
Feeding difficulties
Strabismus
Fixed elbow flexion
Deviation of the 5th finger
Multiple carpal ossification centers
Impaired temperature sensation
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Hyperreflexia and Craniosynostosis, related diseases and genetic alterations
Depressed nasal bridge and Flat face, related diseases and genetic alterations
Ptosis and Anal atresia, related diseases and genetic alterations
Flexion contracture and Bradycardia, related diseases and genetic alterations
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