Syngnathia |
|
Cleft palate |
OMIM:119550 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip |
OMIM:142946 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Depressed nasal ridge, Absent nasal septal cartilage |
ORPHA:2003 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Polyrrhinia |
|
Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology |
ORPHA:141091 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... |
ORPHA:521308 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
Boomerang Dysplasia |
|
Severe short stature, Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Neo... |
OMIM:112310 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
17Q11.2 Microduplication Syndrome |
|
Short stature, Abnormal dental enamel morphology, Bifid nose, Enamel hypoplasia, Thick nasal alae... |
ORPHA:139474 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum |
OMIM:302950 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Anteverted nares, Abnormal nasal septum morphology, Micrognathia |
OMIM:619941 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Absent nasal septal cartilage |
OMIM:157170 |
Zimmermann-Laband Syndrome 2 |
|
Bifid nasal tip, Prominent nasal septum, Short stature, Underdeveloped nasal alae |
OMIM:616455 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Patent ductus arteriosus, Coronal craniosynostosis, Umb... |
ORPHA:2095 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... |
OMIM:613451 |
Cleft Lip And Alveolus |
|
Abnormal nasal morphology, Abnormal nasal septum morphology, Dysphagia |
ORPHA:141291 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Hypoplastic nasal septum, Anteverted nares, Micrognathia |
ORPHA:40366 |
Vexas Syndrome |
|
Nasal chondritis, Chondritis of pinna, Arthritis |
OMIM:301054 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Short stature, Prominent nasal bridge, Prominent nose, Growth delay, Dysph... |
OMIM:619576 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Severe short stature, Depressed nasal bridge, Osteomalacia, Micrognathia, Joint stiff... |
ORPHA:1901 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Prominent na... |
OMIM:601812 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Cleft palate |
ORPHA:2476 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility to fractures,... |
OMIM:146300 |
Craniopharyngioma |
|
Abnormal nasal bone morphology, Proportionate short stature, Postnatal growth retardation, Increa... |
ORPHA:54595 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Multiple Synostoses Syndrome 1 |
|
Proximal/middle symphalangism of 5th toe, Tarsal synostosis, Underdeveloped nasal alae, Wide nasa... |
OMIM:186500 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets |
OMIM:193100 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Hypophosphatemic Bone Disease |
|
Short stature, Osteomalacia, Rickets |
OMIM:146350 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Short stature, Epistaxis, Rickets |
OMIM:211600 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... |
OMIM:123500 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Anteverted nares, Depressed nasal bridge, Carious teeth, Patent ductus arte... |
ORPHA:1051 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epi... |
ORPHA:289157 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Osteomalacia, Rickets, Tooth abscess |
ORPHA:89937 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Anorexia, Rickets |
OMIM:611590 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Spina bifida, Micrognathia, Trismus, Flexion contracture, Depressed nas... |
ORPHA:2671 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300554 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth ... |
OMIM:264700 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets... |
ORPHA:157215 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:600081 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure,... |
ORPHA:93160 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:241530 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Rhizomelia... |
ORPHA:93357 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic... |
OMIM:307800 |
Cystinosis |
|
Short stature, Rickets, Delayed puberty, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Maternal Phenylketonuria |
|
Hyperactivity, Anteverted nares, Micrognathia, Wide nasal bridge, Intrauterine growth retardation... |
ORPHA:2209 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Rickets |
OMIM:602722 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Short stature, Rickets |
OMIM:615605 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... |
ORPHA:2176 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Short stature, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Abnormal ... |
ORPHA:249 |
Dent Disease 1 |
|
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300009 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture, Spina bifida occult... |
OMIM:180849 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... |
ORPHA:289176 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Li... |
ORPHA:89936 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Delayed puberty, Enamel hypop... |
OMIM:212750 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Nasolacrimal Duct Cyst |
|
Nasal congestion, Deviated nasal septum |
ORPHA:141083 |
Fanconi Renotubular Syndrome 1 |
|
Short stature, Osteomalacia, Rickets |
OMIM:134600 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Joint stiffness, Micrognathia, Attention deficit hyperactivity disorde... |
OMIM:618820 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Nasal con... |
ORPHA:562 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nasal septum perforation, Joint stiffness |
OMIM:615934 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Rickets |
ORPHA:79303 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets |
OMIM:268315 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Prominent nose, Mi... |
ORPHA:2636 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Joint laxity, Impulsivity, Prominent nose, Aggressive behavior, Patent ductu... |
OMIM:300967 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ... |
ORPHA:353277 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short stature, Antever... |
OMIM:303600 |
Distal Renal Tubular Acidosis |
|
Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth delay, Increased susce... |
ORPHA:18 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Short stature, Rickets |
OMIM:612089 |
Fanconi-Bickel Syndrome |
|
Growth delay, Osteopenia, Rickets |
ORPHA:2088 |
Fanconi-Bickel Syndrome |
|
Postnatal growth retardation, Rickets, Osteomalacia |
OMIM:227810 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... |
ORPHA:534 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Rickets |
OMIM:616026 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Osteomalacia, Camptodactyly of finger, Aggressive behavior, Postnatal growth retar... |
OMIM:309000 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Abnormality of the sense of smell, J... |
ORPHA:198 |
Wilson Disease |
|
Osteomalacia, Osteoarthritis, Osteoporosis, Dysphagia, Hyposmia, Joint hypermobility |
OMIM:277900 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Polydipsia, Rickets |
ORPHA:411629 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Short stature, Rickets, Reduced bone mineral density, Growth delay, Int... |
OMIM:613658 |
Cystinosis, Nephropathic |
|
Short stature, Oral-pharyngeal dysphagia, Rickets, Dysphagia, Growth delay, Delayed puberty, Hypo... |
OMIM:219800 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Branchiooculofacial Syndrome |
|
Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Broad nasal tip, Cleft of chi... |
OMIM:113620 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Osteomalacia, Anorexia |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Calcification of the auricular cartilage, Osteomalacia, Abnormal calcification of the carpal bone... |
ORPHA:51608 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |