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acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
asphyxiating thoracic dystrophy +
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
basal ganglia calcification +
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
Branchial Arch Syndrome X-Linked
Calcific Aortic Disease with Immunologic Abnormalities, Familial
Calcification of Aortic Valve +
calvarial doughnut lesions with bone fragility
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camurati-Engelmann disease +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
Cerebroretinal Microangiopathy with Calcifications and Cysts +
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
Choroid Plexus Calcification with Mental Retardation
chromosome 6pter-p24 deletion syndrome
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
Conductive Hearing Loss +
Cone-Rod Dystrophy and Hearing Loss +
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Micromelic Dysplasia with Dislocation of Radius +
Czech Dysplasia, Metatarsal Type
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness-Craniofacial Syndrome
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diffuse idiopathic skeletal hyperostosis +
Dyschondrosteosis and Nephritis
Ehlers-Danlos syndrome kyphoscoliotic type 2
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epilepsy, Occipital Calcifications
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Familial Osteodysplasia, Anderson Type
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Frontootopalatodigital Osteodysplasia
Ghosal hematodiaphyseal syndrome
Hearing Loss, Mixed Conductive-Sensorineural +
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary arterial and articular multiple calcification syndrome +
High-Frequency Hearing Loss +
Hyperostosis Frontalis Interna
hyperphosphatemic familial tumoral calcinosis +
hypertrichotic osteochondrodysplasia Cantu type
hypomyelinating leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Iris Dysplasia Hypertelorism Deafness
Jequier Kozlowski Skeletal Dysplasia
Kozlowski Tsuruta Taki Syndrome
Laplane Fontaine Lagardere Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Medial Coronary Sclerosis of Infancy
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Microtia, Hearing Impairment, and Cleft Palate
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Miura type epiphyseal chondrodysplasia
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
normophosphatemic familial tumoral calcinosis
Odontochondrodysplasia 2 with Hearing Loss and Diabetes
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
Osteootohepatoenteric Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pelvis-Shoulder Dysplasia
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Piepkorn Karp Hickok syndrome
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
progressive pseudorheumatoid arthropathy of childhood
pulmonary alveolar microlithiasis
Rajab Interstitial Lung Disease with Brain Calcifications +
Reardon Wilson Cavanagh Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Schaefer Stein Oshman Syndrome
schneckenbecken dysplasia
Schofer Beetz Bohl Syndrome
Schwartz-Jampel syndrome 1
sensorineural hearing loss +
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stuve-Wiedemann Syndrome +
syndromic X-linked intellectual disability Abidi type
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
Tropical Calcific Pancreatitis
Ulna Metaphyseal Dysplasia Syndrome
Unilateral Hearing Loss +
uveal coloboma-cleft lip and palate-intellectual disability
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Whyte Murphy Fallon Sly syndrome
Wolcott-Rallison syndrome
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