Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... |
OMIM:188570 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Hypothyroidism, Goiter |
OMIM:274400 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Thyroid Lymphoma |
|
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Goiter |
OMIM:274240 |
Bangstad Syndrome |
|
Progressive cerebellar ataxia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency... |
OMIM:210740 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Thyroid carcinoma, Hypothyroidism, Goiter |
ORPHA:705 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Dysphagia |
ORPHA:142 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Pheochromocytoma, Elevated circulating calcitonin concent... |
ORPHA:1332 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Pectus excavatum, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... |
OMIM:615108 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Hypothyroidism, Hashimoto thyroiditis, Depression |
ORPHA:83601 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Pectus excavatum, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... |
OMIM:615109 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Pectus excavatum, Pectus carinatum, Gait ataxia, Abnormal rep... |
OMIM:609425 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Abnormal eat... |
ORPHA:209905 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Pectus excavatum, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma... |
OMIM:158350 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Ataxia, Depression, Gait ataxia, Bradykinesia, Gait disturban... |
ORPHA:254892 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Septopreoptic Holoprosencephaly |
|
Impulsivity, Precocious puberty, Abnormal rib morphology, Dysphagia, Anterior hypopituitarism, Ce... |
ORPHA:280195 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Pectus carinatum, Self-injurious behavior, Thorac... |
OMIM:619467 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori... |
OMIM:615633 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest |
ORPHA:1801 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Pectus carinatum, Gait ataxia... |
ORPHA:500180 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Broad clavicles, Nodular goiter |
ORPHA:371428 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Multiple Endocrine Neoplasia, Type Iib |
|
Pectus excavatum, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hy... |
OMIM:162300 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Hyperactivity, Broad-based gait, Aggressive behavior |
ORPHA:457260 |
Cowden Syndrome |
|
Ataxia, Follicular thyroid carcinoma, Pectus excavatum, Enlarged polycystic ovaries, Abnormality ... |
ORPHA:201 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Pectus excavatum, Self-biting, Recurrent hand flappi... |
OMIM:300624 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Depressio... |
ORPHA:449291 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology |
ORPHA:2790 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Abnormal rib morphology, Hypogonadism, Type II diabetes mellitu... |
ORPHA:2234 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Mosaic Trisomy 14 |
|
Cryptorchidism, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Abnormal rib morphology, Congenital hypothyroidism, Abnorma... |
ORPHA:2519 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Disinhibition, Adrenal insu... |
ORPHA:43 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Elevated circulating parathyroid hormone level |
OMIM:122860 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Hypophosphatasia |
|
Irritability, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions |
OMIM:187760 |
Renpenning Syndrome |
|
Diabetes mellitus, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Decreased testicu... |
ORPHA:3242 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... |
ORPHA:3047 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Narrow chest |
ORPHA:93267 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped ribs, Defor... |
ORPHA:168549 |
Metatropic Dysplasia |
|
Long thorax, Abnormal rib morphology, Narrow chest |
ORPHA:2635 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tolerance, Abnorm... |
ORPHA:163681 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Thickened ribs, Aggressive behavior |
OMIM:252920 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Cryptorchidism, Rib fusion, Abnormal rib morphology, Sprengel anomaly |
ORPHA:1988 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Abnormal rib morphology |
ORPHA:2772 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Gait disturbance, Pectus carinatum |
ORPHA:93351 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2345 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multinodular goiter |
OMIM:620189 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Beaded ribs |
OMIM:259440 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... |
ORPHA:79078 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:2522 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Cryptorchidism, Lethargy, Horizontal ribs |
OMIM:614857 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short thorax, Narrow chest |
ORPHA:93299 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Thin clavicles, Long clavicles, Thin ribs |
OMIM:244460 |
White Forelock With Malformations |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... |
OMIM:610217 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Abnormal rib morphology, Cryptorchidism |
ORPHA:628 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Congenital hypoparathyroidism, Thin ribs |
ORPHA:93324 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Thickened ribs |
OMIM:252900 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion |
OMIM:609813 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... |
ORPHA:392 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... |
ORPHA:2021 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, ... |
ORPHA:249 |
Metatropic Dysplasia |
|
Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, Flaring of rib cage |
OMIM:156530 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Cryptorchidism, Short thorax, Rib fusion, Abnormal rib morphology |
ORPHA:2311 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Inability to walk... |
ORPHA:239 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short thorax, Bell-shaped thorax, Narrow ... |
OMIM:200600 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, Cryptorchidism |
ORPHA:1145 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Thickened ribs, Dysphagia |
OMIM:252930 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Phace Syndrome |
|
Abnormal sternum morphology, Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Hypogonadotropic hypogonadism, Pectus carinatum |
ORPHA:3068 |
Prune Belly Syndrome |
|
Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased testicular size |
ORPHA:2970 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thin ribs, Thoracic hypoplasia, Beaded ribs |
OMIM:166210 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2180 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Thoracic scoliosis, Thickened ribs, Aggressive behavior, Agitation, ... |
OMIM:252940 |
Trisomy 13 |
|
Cryptorchidism, Abnormal rib morphology, Narrow chest |
ORPHA:3378 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Rib fusion, Dysmetria, Dysphagia |
OMIM:614688 |
Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1488 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs... |
OMIM:228520 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Adrenal hypoplasia, Short ribs, Short clavicles, Thyroid hypoplasia |
OMIM:308050 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Rib fusion, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... |
ORPHA:261197 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology |
ORPHA:1486 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology, Dysphagia |
ORPHA:171430 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, Thin ribs |
ORPHA:456328 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short ribs, Thoracic hypoplasia, Beaded ribs |
OMIM:616897 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology |
ORPHA:1836 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Undulate ribs, Thin ribs, Ovarian cyst, Short ribs, Narrow chest, Fractured rib |
OMIM:618188 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Difficulty walking, Thin ribs |
ORPHA:169189 |
Cenani-Lenz Syndrome |
|
Hypothyroidism, Abnormal rib morphology |
ORPHA:3258 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Mucopolysaccharidosis Type 4 |
|
Short thorax, Abnormal rib morphology, Gait disturbance, Pectus carinatum |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Ataxia, Anterior rib cupping, Thin ribs, Prominent sternum, Thoracic kyphosis |
OMIM:300232 |
Melnick-Needles Syndrome |
|
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles |
ORPHA:2484 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:118100 |
Trisomy 1Q |
|
Cryptorchidism, Short thorax, Abnormal rib morphology |
ORPHA:261344 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Abnorma... |
ORPHA:581 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax |
OMIM:613686 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Supernumerary nipple, Pectus excavatum, Ri... |
OMIM:213980 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs |
OMIM:615220 |
Three M Syndrome 2 |
|
Thin ribs, Scapular winging, Short thorax, Pectus carinatum |
OMIM:612921 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Thin ribs |
OMIM:300863 |
3M Syndrome |
|
Scapular winging, Short thorax, Thin ribs, Enlarged thorax, Horizontal ribs |
ORPHA:2616 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... |
OMIM:234200 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Bilateral cryptorchidism, Rib fusion, Self-injurious behavior, Attention def... |
ORPHA:544488 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Abnormal thorax morphology, Narrow chest, Dysphagia |
ORPHA:73230 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Short ribs, Narrow chest, Thoracolumbar kyphosis, Thoracic hypoplasia |
OMIM:151210 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology |
ORPHA:2319 |
Greenberg Dysplasia |
|
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... |
OMIM:215140 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Thin ribs |
OMIM:617397 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Unilateral cryptorchidism, Thin ribs |
OMIM:300219 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic fibrosis, Lateral clavicle hook, Pancreatic cysts, Thoracic dysplasia, Short ribs, Nar... |
OMIM:208500 |
Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Pectus excavatum, Abnormal rib morphology, Pectus carinatum, Irrita... |
ORPHA:800 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:3206 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Hyperactivity, Ovarian fibroma, Abnormal rib morphology |
ORPHA:77301 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1834 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Narrow chest, Broad ribs, Thoracic hypoplasia |
OMIM:613848 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Cryptorchidism, Abnormal rib morphology |
ORPHA:2215 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Short ribs, Horizontal ribs |
OMIM:200610 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Pectus excavatum, Cryptorchidism, Thin ribs, Choreoathetosis, Abnormal rib cage mo... |
OMIM:234100 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... |
OMIM:620186 |
Lethal Congenital Contracture Syndrome 10 |
|
Broad ribs, Thoracic scoliosis, Hypoplasia of the thymus, Narrow chest |
OMIM:617022 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Narrow chest, Short clavicles |
ORPHA:1452 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Thin ribs |
OMIM:253290 |
Ellis-Van Creveld Syndrome |
|
Cryptorchidism, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs |
OMIM:225500 |
Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:83 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... |
ORPHA:2166 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly |
ORPHA:958 |
Aspergillosis |
|
Abnormal rib morphology |
ORPHA:1163 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Prominent sternum, Flaring of rib cage, Pectus carinatum |
OMIM:253000 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Thoracic scoliosis, Rib fusion, Posterior rib gap |
OMIM:611209 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Narrow chest, Beaded ribs |
OMIM:616229 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Nar... |
OMIM:263520 |
Alagille Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Delayed puberty |
ORPHA:52 |
Dysosteosclerosis |
|
Sclerotic scapulae, Short sternum, Short ribs, Narrow chest, Broad ribs, Clavicular sclerosis |
OMIM:224300 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavat... |
OMIM:620369 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Long clavicles, Thin ribs |
OMIM:608149 |
Poland Syndrome |
|
Diabetes mellitus, Aplasia/Hypoplasia of the sternum, Missing ribs, Cryptorchidism, Abnormal rib ... |
ORPHA:2911 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Cryptorchidism, Rib fusion, Abnormal sternum morphology, Hypogonadism, Gait dis... |
ORPHA:2990 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchi... |
ORPHA:672 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs |
ORPHA:1394 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs |
OMIM:609616 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:1120 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Down-sloping shoulders, Abnormal sternum morphology, Supernumerary ribs, Short r... |
OMIM:109400 |
Mucopolysaccharidosis, Type X |
|
Broad ribs, Spatulate ribs, Broad clavicles |
OMIM:619698 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Cryptorchidism, Abnormal rib morphology, Narrow chest |
ORPHA:96061 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Internally rotated shoulders, Decreased response to growth hormone stimulation ... |
OMIM:619503 |
Phaver Syndrome |
|
Abnormal rib morphology |
ORPHA:2876 |
Kbg Syndrome |
|
Cryptorchidism, Rib fusion, Cervical ribs, Thoracic kyphosis, Attention deficit hyperactivity dis... |
OMIM:148050 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs |
OMIM:618265 |
Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Lateral clavicle hook, Cryptorchidism, Flat glenoid fossa, Pectus ca... |
OMIM:224690 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology |
ORPHA:3035 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, Hypoplastic nip... |
OMIM:269860 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs |
OMIM:608940 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs |
OMIM:616294 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Lateral clavicle hook, Pectus excavatum, Cryptorchidism, Thin ribs, Pectus carinatum, Supernumera... |
OMIM:182212 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal rib morphology |
ORPHA:1666 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Depression |
ORPHA:93473 |
Vacterl/Vater Association |
|
Cryptorchidism, Abnormal rib morphology |
ORPHA:887 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Diabetes insipidus, Cryptorchidism, Abnormal rib morphology, Depression, Sel... |
ORPHA:534 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Cupped ribs, Flat glenoid fossa, Short ribs, Irregular chondrocostal junctions |
OMIM:250420 |
Mucopolysaccharidosis, Type Ivb |
|
Prominent sternum, Ataxia, Flaring of rib cage |
OMIM:253010 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short ribs |
OMIM:252600 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs |
OMIM:312150 |
Holzgreve Syndrome |
|
Abnormal rib morphology |
ORPHA:2167 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs |
ORPHA:163966 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs |
ORPHA:254528 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia, Dysphagia |
ORPHA:254519 |
Cartilage-Hair Hypoplasia |
|
Flaring of lower rib cage, Short thorax, Abnormal rib morphology, Pectus carinatum, Narrow chest |
ORPHA:175 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs |
OMIM:259420 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Missing ribs, Cryptorchidism, Rib f... |
OMIM:206900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Aggressive behavior, Precocious puberty, Broad ribs, Abnormal repetitive mannerisms |
OMIM:301066 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Flaring of rib cage |
OMIM:612852 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cryptorchidism, Abnormal rib morphology |
ORPHA:1300 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
Cole-Carpenter Syndrome |
|
Abnormal rib morphology |
ORPHA:2050 |
Osteogenesis Imperfecta |
|
Multiple rib fractures, Ataxia, Pectus excavatum, Abnormal rib morphology, Pectus carinatum, Thin... |
ORPHA:666 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Abnormal thymus morphology, Thin ribs |
ORPHA:2463 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617925 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Short ribs, Missing ribs, Thin ribs |
OMIM:271520 |
Aicardi Syndrome |
|
Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Bifid ribs, Delayed puberty |
ORPHA:50 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Cryptorchidism, Hypothyroidism, Polyphagia, Rib fusion, Self-injurious behavior... |
ORPHA:1606 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Long clavicles, Down-sloping shoulders, Cryptorchidism, Rib fusion, Gait disturbance, Hypoplastic... |
OMIM:265000 |
Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum, Thin rib... |
OMIM:600920 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs |
OMIM:618395 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia |
OMIM:613091 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Posterior rib ... |
OMIM:117650 |
Sclerosteosis 1 |
|
Broad ribs, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
Xylt1-Cdg |
|
Broad ribs, Short clavicles |
ORPHA:370930 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal rib morphology, Aplastic clavicle, Missing ribs |
ORPHA:2769 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia |
OMIM:211350 |
Nestor-Guillermo Progeria Syndrome |
|
Rib osteolysis, Progressive clavicular acroosteolysis, Decreased serum leptin, Thin ribs |
OMIM:614008 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs |
OMIM:617952 |
Myhre Syndrome |
|
Precocious puberty, Cryptorchidism, Hypogonadism, Abnormal rib morphology |
ORPHA:2588 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Ataxia, Pectus excavatum, Pectus carinatum, Depression |
ORPHA:309282 |
Premature Aging Syndrome, Penttinen Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Cervical ribs, Thin ribs |
OMIM:601812 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Absent nipple, Missing ribs, Thin ribs, Narrow chest |
OMIM:200980 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Pectus excavatum, Cryptorchidism, Abn... |
ORPHA:96334 |
Trisomy 18 |
|
Cryptorchidism, Abnormal rib morphology |
ORPHA:3380 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal rib morphology, Abnormality of the adrena... |
ORPHA:138 |
Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Abnormal rib morphology, Attention deficit hyperactivity disorder, Crypt... |
ORPHA:818 |
Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Cupped ribs, Pectus carinatum, Short ribs, Narrow chest |
OMIM:607778 |
Gracile Bone Dysplasia |
|
Thin ribs |
OMIM:602361 |
Aicardi Syndrome |
|
Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Bifid ribs |
OMIM:304050 |
Cantú Syndrome |
|
Broad ribs, Narrow chest |
ORPHA:1517 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal rib morphology, Narrow chest |
ORPHA:90652 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs |
ORPHA:85184 |
Mucopolysaccharidosis Type 6 |
|
Broad ribs |
ORPHA:583 |
Occipital Horn Syndrome |
|
Broad clavicles, Pectus excavatum, Pectus carinatum, Narrow chest, Short clavicles, Broad ribs |
OMIM:304150 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs |
OMIM:230500 |
Ear-Patella-Short Stature Syndrome |
|
Breast aplasia, Cryptorchidism, Abnormal rib morphology, Aplastic clavicle |
ORPHA:2554 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs |
OMIM:269300 |
Pyknoachondrogenesis |
|
Enlarged thorax, Short thorax, Short ribs, Horizontal ribs |
ORPHA:3003 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Dysphagia |
OMIM:601559 |
Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Splenopancreatic fusion, Hypoplasia of first ribs, Short sternum, Hypoplastic nip... |
OMIM:269150 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Down-sloping shoulders, Decreased response to ... |
OMIM:214800 |
Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short ribs, Thin ribs |
OMIM:620076 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Aggressive behavior, Cryptorchidism, Hypothyroidism, Rib fusion, Congenital hyp... |
OMIM:607872 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Streak ovary, Abnormal thorax morphology, Central hypothyroidism, D... |
ORPHA:798 |
Frontometaphyseal Dysplasia 1 |
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Scapular winging, Coat hanger sign of ribs |
OMIM:305620 |
Lenz-Majewski Hyperostotic Dwarfism |
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Cryptorchidism, Broad ribs, Anterior pituitary hypoplasia, Broad clavicles |
OMIM:151050 |
Simpson-Golabi-Behmel Syndrome |
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Supernumerary nipple, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Pancreatic islet... |
ORPHA:373 |
Eiken Syndrome |
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Broad ribs |
OMIM:600002 |
Pagod Syndrome |
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Abnormal clavicle morphology, Abnormal testis morphology, Abnormal rib morphology |
ORPHA:991 |
Osteopathia Striata With Cranial Sclerosis |
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Pectus excavatum, Broad ribs, Thoracolumbar kyphosis, Straight clavicles |
OMIM:300373 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Ataxia, Cryptorchidism, Abnormal thorax morphology, Rib fusion |
ORPHA:280 |
Brachytelephalangic Chondrodysplasia Punctata |
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Abnormality of the costochondral junction |
ORPHA:79345 |
Autosomal Recessive Robinow Syndrome |
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Pectus excavatum, Cryptorchidism, Rib fusion, Pectus carinatum |
ORPHA:1507 |
Robinow Syndrome, Autosomal Recessive 1 |
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Pectus excavatum, Cryptorchidism, Rib fusion, Missing ribs |
OMIM:268310 |
Osteogenesis Imperfecta, Type Viii |
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Barrel-shaped chest, Thin ribs |
OMIM:610915 |
Fryns Syndrome |
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Ectopic pancreatic tissue, Cryptorchidism, Thin ribs, Broad ribs, Thoracic hypoplasia |
OMIM:229850 |
Cranioectodermal Dysplasia 2 |
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Pectus excavatum, Bile duct proliferation, Short ribs, Narrow chest, Horizontal ribs |
OMIM:613610 |
Alagille Syndrome 1 |
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Abnormal rib morphology, Papillary thyroid carcinoma |
OMIM:118450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Short ribs, Narrow chest |
OMIM:250220 |
Mucopolysaccharidosis, Type Vi |
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Broad ribs, Prominent sternum, Pectus carinatum |
OMIM:253200 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormal rib morphology |
ORPHA:2907 |
Monosomy 9P |
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Cryptorchidism, Abnormal rib morphology |
ORPHA:261112 |
Campomelic Dysplasia |
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11 pairs of ribs, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scapulae, Pectus c... |
OMIM:114290 |
Kindler Epidermolysis Bullosa |
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Abnormal rib morphology, Dysphagia |
ORPHA:2908 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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11 pairs of ribs, Cupped ribs, Abnormal rib cage morphology, Flaring of rib cage |
OMIM:271640 |
Ulbright-Hodes Syndrome |
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Maternal diabetes, Cryptorchidism, Abnormal rib morphology, Thin ribs, Short sternum, Short ribs |
ORPHA:3404 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Cupped ribs |
ORPHA:85167 |
Osteopetrosis With Renal Tubular Acidosis |
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Pectus excavatum, Prominent floating ribs, Secondary hyperparathyroidism |
ORPHA:2785 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplastia of the eccrine ... |
ORPHA:1662 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Pectus excavatum, Cryptorchidism, Undulate ribs, Short clavicles |
OMIM:609945 |
X-Linked Hypophosphatemia |
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Enlargement of the costochondral junction, Rachitic rosary, Beaded ribs |
ORPHA:89936 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs |
OMIM:618019 |
Weill-Marchesani Syndrome 1 |
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Broad ribs |
OMIM:277600 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Precocious puberty, Cryptorchidism, Rib fusion, Abnormal sternal ... |
OMIM:194190 |
Robinow Syndrome |
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Cryptorchidism, Decreased serum testosterone concentration, Rib fusion, Missing ribs |
ORPHA:97360 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Long clavicles, Biliary hyperplasia, Cryptorchidism, Thin ribs, Cholelithiasis, Pancreatic hypopl... |
ORPHA:83617 |
Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Truncal ataxia, Thin ribs, Increased serum testosterone level, Hypoplasia of the ... |
OMIM:264090 |
Myhre Syndrome |
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Broad ribs, Ataxia, Cryptorchidism |
OMIM:139210 |
Femoral-Facial Syndrome |
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Maternal diabetes, Missing ribs, Cryptorchidism, Rib fusion, Sprengel anomaly |
OMIM:134780 |
Zttk Syndrome |
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Cervical ribs, Absent gallbladder, Rib fusion |
OMIM:617140 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Short ribs, Narrow chest, Horizontal ribs, Short clavicles |
OMIM:617088 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal rib morphology, Narrow chest |
ORPHA:667 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Cryptorchidism,... |
OMIM:276820 |
Coccidioidomycosis |
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Abnormality of the endocrine system, Broad ribs |
ORPHA:228123 |
Weill-Marchesani Syndrome 2 |
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Broad ribs |
OMIM:608328 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Abnormal rib morphology |
ORPHA:488434 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Pectus excavatum, Supernumerary ribs, Thin ribs |
OMIM:619127 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Thin ribs |
OMIM:225400 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures |
OMIM:612301 |
Fetal Akinesia Deformation Sequence 1 |
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Cryptorchidism, Thoracic hypoplasia, Thin ribs |
OMIM:208150 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Rib fusion, Cervical ribs, Dysphagia |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Vii |
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Pectus excavatum, Multiple rib fractures, Narrow chest |
OMIM:610682 |
Townes-Brocks Syndrome |
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Hypothyroidism, Abnormal rib morphology, Delayed puberty, Cryptorchidism |
ORPHA:857 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs |
ORPHA:217093 |
Cog1-Cdg |
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Rib fusion, Posterior rib gap |
ORPHA:263508 |
Craniotubular Dysplasia, Ikegawa Type |
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Broad ribs |
OMIM:619727 |
Vater/Vacterl Association |
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Abnormal sternum morphology, Abnormal rib morphology |
OMIM:192350 |
Cardiospondylocarpofacial Syndrome |
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Rib fusion, Decreased testicular size |
OMIM:157800 |
Baller-Gerold Syndrome |
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Rib fusion |
OMIM:218600 |