Arthritis, and Spina bifida
Diseases related with Arthritis and Spina bifida
In the following list you will find some of the most common rare diseases related to Arthritis and Spina bifida that can help you solving undiagnosed cases.
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Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency
Related symptoms:
- Muscle weakness
- Muscular hypotonia
- Pain
- Peripheral neuropathy
- Skeletal muscle atrophy
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome
Related symptoms:
- Ventricular septal defect
- Headache
- Patent ductus arteriosus
- Constipation
- Diabetes mellitus
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CRANIO-OSTEOARTHROPATHY
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).
ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES:
OMIM
MENDELIAN
More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
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Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly
Related symptoms:
- Short stature
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
- Micrognathia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
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
A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.
MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1
Related symptoms:
- Intellectual disability
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Strabismus
SOURCES:
OMIM
MENDELIAN
More info about MARFAN SYNDROME; MFS
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about VELOCARDIOFACIAL SYNDROME
Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about FLOATING-HARBOR SYNDROME
DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.
DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
OMIM
MENDELIAN
More info about DIGEORGE SYNDROME; DGS
Top 5 symptoms//phenotypes associated to Arthritis and Spina bifida
Symptoms // Phenotype |
% cases |
Short stature |
Common - Between 50% and 80% cases
|
High palate |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Hearing impairment |
Common - Between 50% and 80% cases
|
Short neck |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Arthritis and Spina bifida. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Scoliosis
Uncommon Symptoms - Between 30% and 50% cases
Flexion contracture
Abnormality of cardiovascular system morphology
Strabismus
Ventricular septal defect
Micrognathia
Abnormal facial shape
Generalized hypotonia
Kyphoscoliosis
Meningocele
Atrial septal defect
Cleft palate
Muscle weakness
Talipes
Global developmental delay
Inguinal hernia
Kyphosis
Hypertelorism
Microcephaly
Seizures
Conductive hearing impairment
Malar flattening
Bulbous nose
Rheumatoid arthritis
Arthralgia
Spina bifida occulta
Joint laxity
Nasal speech
Muscular hypotonia
Psoriasiform dermatitis
Abnormality of the skeletal system
Joint hyperflexibility
Dental malocclusion
Underdeveloped nasal alae
Enlarged joints
Hypothyroidism
Hernia
Umbilical hernia
Blepharophimosis
Abnormal heart morphology
Delayed skeletal maturation
Sacral meningocele
Hyperlordosis
Cognitive impairment
Low posterior hairline
Platyspondyly
Delayed speech and language development
Hip dislocation
Osteoarthritis
Joint stiffness
Retrognathia
Unilateral renal agenesis
Long philtrum
Short nose
Deeply set eye
Telecanthus
Pes planus
Fever
Talipes equinovarus
Posteriorly rotated ears
Patent ductus arteriosus
Camptodactyly
Low-set ears
Bifid uvula
Rare Symptoms - Less than 30% cases
Micromelia
Hydronephrosis
Specific learning disability
Amenorrhea
Renal agenesis
Feeding difficulties in infancy
Tetralogy of Fallot
Autoimmunity
Mitral regurgitation
Myopia
Midface retrusion
Chorea
Hemolytic anemia
Aortic regurgitation
Craniosynostosis
Overbite
Anteverted nares
Microdontia
Short philtrum
Depressed nasal bridge
Epiphyseal dysplasia
Retinal detachment
Cholelithiasis
Right aortic arch
Bicuspid aortic valve
Arnold-Chiari malformation
Joint dislocation
Perimembranous ventricular septal defect
Interrupted aortic arch
Graves disease
Aplasia of the uterus
Seborrheic dermatitis
Juvenile rheumatoid arthritis
Irregular vertebral endplates
Schizophrenia
Abnormality of the hand
Myelomeningocele
Impaired T cell function
Truncus arteriosus
Small epiphyses
Irregular epiphyses
Hypoplasia of the capital femoral epiphysis
Hypoparathyroidism
Vitiligo
Bipolar affective disorder
Posterior embryotoxon
Spinal dysraphism
Autoimmune thrombocytopenia
Acne
Inflammation of the large intestine
Autoimmune hemolytic anemia
Broad nasal tip
Genu valgum
Short metacarpal
Hypocalcemia
Otitis media
Limb undergrowth
Lumbar hyperlordosis
Abnormal form of the vertebral bodies
Primary amenorrhea
Rhizomelia
Renal dysplasia
Short long bone
Neoplasm
Heart murmur
Flared metaphysis
Abnormal joint morphology
Pulmonic stenosis
Right aortic arch with mirror image branching
Skeletal dysplasia
Microtia
Pierre-Robin sequence
Camptodactyly of finger
Pectus excavatum
Coronal cleft vertebrae
Premature osteoarthritis
Arteria lusoria
Aplasia of the thymus
Conotruncal defect
Brachydactyly
Retinal vascular tortuosity
Intellectual disability, mild
Purpura
Duodenal stenosis
Abnormality of the pinna
Mandibular prognathia
Rocker bottom foot
Constipation
Behavioral abnormality
Hydrocephalus
Hypoplasia of the corpus callosum
Spinal deformities
Anemia
Lipoma
Hypoplasia of the brainstem
Back pain
Cataract
Holoprosencephaly
Dilatation
Clinodactyly
Anal atresia
Headache
Recurrent infections
Gastroesophageal reflux
High, narrow palate
Soft skin
Amblyopia
Mitral valve prolapse
Exotropia
Vesicoureteral reflux
Joint hypermobility
Arachnodactyly
Stroke
Arrhythmia
Peripheral neuropathy
Pain
Immunodeficiency
Narrow vertebral interpedicular distance
Coarctation of aorta
Anxiety
Glaucoma
Thrombocytopenia
Hypertonia
Cerebellar atrophy
Myopathy
Wide nasal bridge
Ptosis
Cryptorchidism
Postnatal growth retardation
Small for gestational age
Short palpebral fissure
Hyperactivity
Narrow mouth
Broad thumb
Abnormality of the skin
Aggressive behavior
Thoracic kyphosis
Congenital contracture
Obesity
Hypospadias
Myopathic facies
Aortic dissection
Genu recurvatum
Obstructive sleep apnea
Arachnoid cyst
Hypoplasia of the iris
Subarachnoid hemorrhage
Mental deterioration
Open bite
Megalocornea
Abnormality of the sternum
Dilatation of the cerebral artery
Aortic root aneurysm
Decreased muscle mass
Obsessive-compulsive behavior
Congenital cataract
Disproportionate tall stature
Restrictive ventilatory defect
Reduced subcutaneous adipose tissue
Dysmetria
Striae distensae
Slender finger
Apathy
Dysdiadochokinesis
Spondylolisthesis
Absent speech
Pulmonary edema
Spontaneous pneumothorax
Intellectual disability, severe
Depressivity
Psychosis
Peripheral demyelination
Inferior oblique muscle overaction
Medial rotation of the medial malleolus
Open mouth
Mitral annular calcification
Pulmonary artery dilatation
Incisional hernia
Increased axial length of the globe
Anisometropia
Overjet
Hallucinations
Cystic medial necrosis
Low back pain
Endocarditis
Homocystinuria
Pneumothorax
Hypoplasia of the musculature
Narrow palpebral fissure
Ascending tubular aorta aneurysm
Thoracic aortic aneurysm
Tricuspid valve prolapse
Microspherophakia
Dural ectasia
Protrusio acetabuli
Dementia
Multicystic kidney dysplasia
Flat cornea
Hypertropia
Hypopnea
Gait disturbance
Abnormality of the ear
11 pairs of ribs
Congenital posterior urethral valve
Congenital pseudoarthrosis of the clavicle
Pseudoarthrosis
Persistent left superior vena cava
Varicocele
Expressive language delay
Short upper lip
Stiff neck
Tethered cord
Broad columella
Hyperextensibility of the finger joints
Speech apraxia
Villous atrophy
Enlarged naris
Enuresis
Short attention span
Abnormality of the clavicle
Short columella
Cone-shaped epiphyses of the phalanges of the hand
Sprengel anomaly
Short clavicles
Proportionate short stature
Celiac disease
High pitched voice
Preauricular pit
Impulsivity
Epididymal cyst
Curved fingers
Language impairment
Anterior segment developmental abnormality
Parathyroid agenesis
Parathyroid hypoplasia
Decreased circulating parathyroid hormone level
Accommodative esotropia
Esophoria
Vascular tortuosity
Abnormality of the thymus
Abnormality of the middle ear
Perisylvian polymicrogyria
Alcoholism
Femoral hernia
Hypoplasia of the thymus
Tetany
Broad fingertip
Sclerocornea
Iris coloboma
Polymicrogyria
Astigmatism
Generalized tonic-clonic seizures
Attention deficit hyperactivity disorder
Abnormality of the kidney
Cleft lip
Microphthalmia
Mesocardia
Generalized cerebral atrophy/hypoplasia
Abnormal soft palate morphology
Clubbing
Trigonocephaly
Basal ganglia calcification
Psychotic episodes
Large for gestational age
Intrauterine growth retardation
Dysarthria
Hyperreflexia
Hypertension
Growth delay
Unilateral primary pulmonary dysgenesis
Unilateral lung agenesis
Congenital conductive hearing impairment
Perineal fistula
Vascular ring
Central nervous system degeneration
Velopharyngeal insufficiency
Abnormality of the dentition
Giant platelets
Paranoia
Mood swings
Platybasia
Pulmonary artery atresia
Abnormality of the endocrine system
Echolalia
Delusions
Hearing abnormality
Anal stenosis
Submucous cleft hard palate
Axonal loss
Vomiting
Clinodactyly of the 5th finger
Abnormality of the voice
Hypoplasia of the maxilla
Abnormality of the fingernails
Nephrocalcinosis
Finger clinodactyly
Generalized hirsutism
Short thumb
Long eyelashes
Recurrent otitis media
Interphalangeal joint contracture of finger
Apraxia
Hypoplasia of penis
Prominent nose
Triangular face
Small hand
Babinski sign
Downturned corners of mouth
Hirsutism
Thin vermilion border
Smooth philtrum
Poor speech
Malabsorption
Hypermetropia
Neurological speech impairment
Prominent nasal bridge
Wide mouth
Intellectual disability, moderate
Thin upper lip vermilion
Upslanted palpebral fissure
Emphysema
Short thorax
Epiphora
Adducted thumb
Ulnar deviation of the hand or of fingers of the hand
Abnormal auditory evoked potentials
Flexion contracture of toe
Dimple chin
Breech presentation
Trismus
Malignant hyperthermia
Distal arthrogryposis
Atrophy/Degeneration affecting the brainstem
Hip contracture
Mask-like facies
Pterygium
Knee flexion contracture
Whistling appearance
Joint contracture of the hand
Intellectual disability, profound
Flat face
Arthrogryposis multiplex congenita
Prominent forehead
Epicanthus
Failure to thrive
Hydromyelia
Presacral teratoma
Anterior sacral meningocele
Hemisacrum
Cloacal exstrophy
Rectal fistula
Shoulder flexion contracture
Chin with H-shaped crease
Sirenomelia
Vitreoretinopathy
Wide nose
Osteoporosis
Elevated serum creatine phosphokinase
Frontal bossing
Macrocephaly
Aplasia/Hypoplasia of the capital femoral epiphysis
Large tarsal bones
Abnormal lacrimal duct morphology
Prominent interphalangeal joints
Enlarged epiphyses
Short 5th metacarpal
Beaking of vertebral bodies
Glossoptosis
Sensorineural hearing impairment
Synostosis of carpal bones
Occipital encephalocele
Disproportionate short stature
Mixed hearing impairment
Prominent supraorbital ridges
Recurrent pneumonia
Short phalanx of finger
Encephalocele
Abnormality of the metaphysis
Depressed nasal ridge
Short palm
Muscular hypotonia of the trunk
Proptosis
Sacral lipoma
Dermoid cyst
Abnormality of epiphysis morphology
Hiatus hernia
Premature arteriosclerosis
Ambiguous genitalia, female
Congenital adrenal hyperplasia
Arteriosclerosis
Rectal prolapse
Poor wound healing
Muscle fiber splitting
Increased connective tissue
Precocious atherosclerosis
Bicornuate uterus
Proximal amyotrophy
Adrenal hyperplasia
Adrenal hypoplasia
Diabetes mellitus
Atrophic scars
Hyperextensible skin
Thin skin
Ambiguous genitalia
Gastrointestinal hemorrhage
Single transverse palmar crease
Sensory neuropathy
Bruising susceptibility
Scarring
Myalgia
Proximal muscle weakness
Fatigue
Skeletal muscle atrophy
Quadricuspid aortic valve
Urinary incontinence
Exstrophy
Abnormality of tibia morphology
Rectal abscess
Absence of the sacrum
Clubbing of toes
Cyclopia
Mottled pigmentation
Lower limb undergrowth
Bladder exstrophy
Teratoma
Deviation of finger
Urinary retention
Abnormality of the knee
Neurogenic bladder
Abnormal cortical bone morphology
Chronic constipation
Eczema
Maternal diabetes
Abnormality of the skull
Syringomyelia
Joint swelling
Transposition of the great arteries
Hyperostosis
Tracheoesophageal fistula
Abnormality of the genitourinary system
Type I diabetes mellitus
Meningitis
Situs inversus totalis
Large fontanelles
Omphalocele
Nail dysplasia
Congenital hip dislocation
Hammertoe
Abnormality of the carpal bones
Multiple carpal ossification centers
Limited hip extension
Generalized bone demineralization
Intervertebral disc degeneration
Tricuspid stenosis
Anisospondyly
Intervertebral space narrowing
Sclerotic vertebral endplates
Shoulder dislocation
Multiple joint dislocation
Knee dislocation
Decreased hip abduction
Frontal upsweep of hair
Fixed elbow flexion
Ulnar bowing
Flattened epiphysis
Shield chest
Disproportionate short-trunk short stature
Mitral stenosis
Short 4th metacarpal
High anterior hairline
Barrel-shaped chest
Abnormality of the elbow
Short humerus
Arthropathy
Thin ribs
Vertebral fusion
Deviation of the 5th finger
Downslanted palpebral fissures
Limited elbow extension
Cardiomegaly
Aortic aneurysm
Ectopia lentis
Redundant skin
Sleep apnea
Narrow palate
Spontaneous abortion
Elbow flexion contracture
Narrow face
Tall stature
Dental crowding
Decreased body weight
Abnormal lung morphology
Abnormality of the cardiovascular system
Respiratory insufficiency
Overgrowth
Esotropia
Chest pain
Polyneuropathy
Long face
Peripheral axonal neuropathy
Dolichocephaly
Pectus carinatum
Apnea
Pes cavus
Visual loss
Congestive heart failure
Edema
Tibial bowing
Short femoral neck
Genu varum
Thoracolumbar kyphosis
Delayed patellar ossification
Narrow femoral neck
Slender metacarpals
Posterior scalloping of vertebral bodies
Abnormality of the patella
Large joint dislocations
Laryngotracheomalacia
Abnormal bone ossification
Laryngeal stenosis
Abnormal sacrum morphology
Inspiratory stridor
Flat capital femoral epiphysis
Enlarged thorax
Abnormal calcification of the carpal bones
Broad distal phalanx of finger
Carpal bone hypoplasia
Generalized osteoporosis
Spondyloepimetaphyseal dysplasia
Upper airway obstruction
Generalized joint laxity
Delayed epiphyseal ossification
Thoracolumbar scoliosis
Tracheomalacia
Thoracic scoliosis
Dislocated radial head
Metaphyseal irregularity
Stridor
Streaky metaphyseal sclerosis
Slender proximal phalanx of finger
Hallux valgus
Ventricular hypertrophy
Bilateral talipes equinovarus
Hypoplasia of the ulna
Spondyloepiphyseal dysplasia
Tricuspid regurgitation
Cubitus valgus
Sparse eyebrow
Elbow dislocation
Delayed gross motor development
Widely spaced teeth
Bilateral single transverse palmar creases
Aortic valve stenosis
Sparse and thin eyebrow
Bowing of the long bones
Pulmonary arterial hypertension
Caudal interpedicular narrowing
Wide intermamillary distance
Waddling gait
Delayed eruption of teeth
Highly arched eyebrow
Short distal phalanx of finger
Thick eyebrow
Broad forehead
Severe short stature
Motor delay
Delayed phalangeal epiphyseal ossification
Long proximal phalanx of finger
Long distal phalanx of finger
Slender distal phalanx of finger
Type I truncus arteriosus
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