Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... |
ORPHA:280356 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Kyphosis, Hyperlordosis, Hyp... |
ORPHA:3085 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Sacral dimple, Decreased... |
ORPHA:1643 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Polycystic ovaries, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic ... |
ORPHA:2228 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Hypertrichosis, Amenorrhea, Low ante... |
ORPHA:528 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Preeclampsia |
|
Small for gestational age, Increased body mass index, Polycystic ovaries, Abnormality of the hepa... |
ORPHA:275555 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Abnormal testis morphology, Dia... |
ORPHA:100 |
Donohue Syndrome |
|
Hypertrichosis, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertr... |
OMIM:246200 |
Polycystic Ovary Syndrome 1 |
|
Hirsutism, Oligomenorrhea, Amenorrhea, Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Oligomenorrhea, Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ova... |
OMIM:604367 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Ambiguou... |
ORPHA:90796 |
Rudiger Syndrome |
|
Hypoplastic fingernail, Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hypergonadotropic ... |
OMIM:268020 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Alopec... |
ORPHA:457059 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... |
ORPHA:79083 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Hirsutism, Diabetes mellitus |
OMIM:608709 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, Truncal obesity, High anterior hairline, Short neck, Sparse h... |
ORPHA:284180 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Oligomenorrhea, Hepatic fibrosis, Hepatocellular car... |
ORPHA:370 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary trac... |
ORPHA:400 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Hirsutism, Amenorrhea, Polycystic ovaries,... |
ORPHA:2795 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... |
ORPHA:2348 |
46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... |
ORPHA:243 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Oligomenorrhea, Hepatic fibrosis, Failure to thrive,... |
ORPHA:264580 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormal hair morphology, Amenorrhea, Hypoplasia of the ovary, Abnormal... |
ORPHA:3130 |
Distal Monosomy 10P |
|
Polycystic ovaries, Cryptorchidism, Hypoplastic toenails, Abnormal fingernail morphology, Short n... |
ORPHA:1580 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... |
ORPHA:79085 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Micropenis, Breast hypoplasia, Hypogonadotropic hypogonadism, Absence of pu... |
ORPHA:432 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... |
ORPHA:435651 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse pubic hair, Agonadism, Sparse and thin eyebrow, Primary gonadal insufficiency, Breast hypo... |
ORPHA:2232 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genitalia, female,... |
ORPHA:90795 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Kyphosis |
ORPHA:1875 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dysplasia, Short neck... |
ORPHA:110 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypoplasia of the ovar... |
OMIM:614841 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Hepa... |
ORPHA:562 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Hepatic fibrosis, Oligomenorrhea, Hepatocellular carcinoma, Polycysti... |
ORPHA:79240 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... |
ORPHA:435660 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Spar... |
ORPHA:251510 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Luscan-Lumish Syndrome |
|
Hirsutism, Polycystic ovaries, High anterior hairline, Obesity, Irregular menstruation |
OMIM:616831 |
Cowden Syndrome 5 |
|
Goiter, Kyphosis, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Hyp... |
OMIM:615108 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Cowden Syndrome 6 |
|
Goiter, Kyphosis, Varicocele, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Palmoplantar hyperke... |
OMIM:615109 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... |
ORPHA:91 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... |
ORPHA:90970 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth h... |
ORPHA:90301 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hirsutism, Small for gestational age, Kyphosis |
ORPHA:85288 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Cowden Syndrome 1 |
|
Goiter, Kyphosis, Varicocele, Thyroid adenoma, Hyperthyroidism, Ovarian carcinoma, Thyroiditis, P... |
OMIM:158350 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Scoliosis, Premature ovarian insufficiency |
OMIM:619518 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... |
ORPHA:2235 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Hirsutism, Abnormality of... |
ORPHA:2298 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... |
ORPHA:280365 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Scheuermann-like vertebral changes, Kyphosis, Micropenis, Cervical sp... |
OMIM:301900 |
Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hirsuti... |
ORPHA:247768 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labi... |
OMIM:269700 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Aplasia of the uterus, Small nail, Hypertrichosis, Urethral stenosis, Apla... |
OMIM:614527 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labi... |
OMIM:608594 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Abnormality of the subungual region, Micropenis, Decre... |
ORPHA:335 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Increased circulating go... |
ORPHA:64739 |
Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Kyphosis, Splenomegaly |
ORPHA:796 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Zimmermann-Laband Syndrome 3 |
|
Small nail, Hypertrichosis, Low anterior hairline, Absent toenail, Facial hypertrichosis, Long ey... |
OMIM:618658 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... |
ORPHA:40 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrhosis, Hepatic steatos... |
ORPHA:79086 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis, Abnormal hair pattern |
ORPHA:1770 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Highly arched eyebrow, Oligomenorrhea, Streak ovary... |
ORPHA:572333 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... |
OMIM:271530 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Kyphosis, Thick hair, Thick eyebrow, Low posterior hairline, Scoliosis, Synophrys |
ORPHA:2429 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Hirsutism, Sertoli cell neoplasm, Abnormal morphology of female ... |
ORPHA:1359 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Hepatic cysts, Alopecia, Polycystic kidney ... |
OMIM:311200 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis |
OMIM:618512 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hirsutism, Polycystic ovaries, Nodular goiter, Abnormal form of the vertebral bodies, Premature t... |
ORPHA:371428 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Hir... |
ORPHA:314478 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Small for gestational age, Kyphosis |
OMIM:618392 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Alopecia of scalp, Abnormal hair quantity, Kyphosis, Low posterior hairline, Cryptorchidism, Vert... |
ORPHA:2617 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Ovarian cyst, Biliary tract abnormality, Uterine neoplasm, Precocious p... |
OMIM:175200 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Fibrous Dysplasia Of Bone |
|
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortiso... |
ORPHA:249 |
Infantile Systemic Hyalinosis |
|
Failure to thrive, Polycystic ovaries, Abnormality of the adrenal glands, Aplasia/Hypoplasia of t... |
ORPHA:2176 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Highly arched eyebrow, Amenorrhea, Sparse pubic hair, Increased circulating gonadotropin level, F... |
OMIM:110100 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Kyphosis, Cryptorchidism, Short neck, Scoliosis |
OMIM:611890 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Scoliosis, Kyphosis |
OMIM:618323 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Cryptorchidism, Kyphosis |
OMIM:618393 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic steatos... |
OMIM:151660 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hirsutism, Scoliosis, Kyphosis |
OMIM:300434 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis |
OMIM:300718 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Abnormality of the gallbladder, Cervix cancer, Biliary tract neoplasm, Pancreatic a... |
ORPHA:2869 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glycogen content, Failure ... |
ORPHA:79259 |
Mcdonough Syndrome |
|
Cachexia, Kyphosis, Cryptorchidism, Scoliosis, Synophrys |
ORPHA:2471 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Long eyelashes, Abnormality of the cervical spine, Kyphosis, Scoli... |
ORPHA:48431 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Abnormal testis morphology, Scoliosis, Kyphosis |
ORPHA:1548 |
Mental Retardation, Autosomal Dominant 26 |
|
Highly arched eyebrow, Small for gestational age, Kyphosis, Thick eyebrow, Scoliosis |
OMIM:615834 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Platyspondyly, Albinism, Kyphosis |
ORPHA:2786 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis |
OMIM:609384 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Kyphosis, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Elevated hepatic tran... |
OMIM:615381 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Cryptorchidism, Scoliosis, Small for gestational age, Kyphosis |
OMIM:618484 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hyperparakeratosis, Scoliosis, Hydrocele testis |
ORPHA:276280 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Hypogonadism, Micropenis, Thick eyebrow, Obesity, Cryptor... |
OMIM:615547 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Scoliosis, Kyphosis |
ORPHA:276630 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Small for gestational age, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:352490 |
Widow'S Peak Syndrome |
|
Widow's peak, Cryptorchidism, Shawl scrotum, Kyphosis |
OMIM:314570 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... |
ORPHA:1916 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:600175 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Synophrys, Scoliosis, Kyphosis |
ORPHA:85317 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Kyphosis, Hyperkeratosis, Sparse hair, Scoliosis |
ORPHA:1883 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Scoliosis, Kyphosis |
OMIM:617190 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the spleen, Abnormality of the ovary, Abnormality of the... |
ORPHA:543 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Low anterior hairline, Kyphosis, Sacral dimple, Hyperlordosis, Scoliosis, Synophrys |
OMIM:615761 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Multinodular goiter, Insulin-resistan... |
OMIM:203800 |
Srd5A3-Cdg |
|
Hypertrichosis, Abnormal sacrum morphology, Palmoplantar keratoderma, Kyphosis, Hypothyroidism, E... |
ORPHA:324737 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Kyphosis, Hypogonadism, Micropenis, Abdominal obesity, Cryptorchidism, Decreased tes... |
OMIM:300354 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal deformities, Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism |
OMIM:615084 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypospadias, Bifid scrotum, Hemivertebrae, Small for gestational age, Chordee, Vesicovaginal fist... |
OMIM:201750 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Distichiasis, Scoliosis, Delayed puberty, Kyphosis |
ORPHA:2598 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Synophrys, Thick eyebrow, Kyphosis |
OMIM:617061 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Small scrotum, Abnormal hair pattern, Kyphosis, Hypogonadism, Spina bifida occulta, Low posterior... |
ORPHA:2983 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Alopecia, Hypoplasia of the fallopian tube, De... |
ORPHA:3464 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Abnormality of the nail, Thoracolumbar scoliosis, Platyspondyly, Kyphosis |
OMIM:313420 |
Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Kyphosis, Uncombable hair, Cryptorchidism, Slow-growing hair, Aplasia/H... |
ORPHA:3082 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Hypogonadism, Short neck, Obesity, Cryptorchidism, Hypoplasia of penis |
ORPHA:3409 |
Ck Syndrome |
|
Slender build, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:300831 |
Zimmermann-Laband Syndrome 2 |
|
Long eyelashes, Kyphosis, Thick eyebrow, Short neck, Widow's peak, Synophrys |
OMIM:616455 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Scoliosis, Kyphosis |
ORPHA:178148 |
Mental Retardation, Autosomal Dominant 57 |
|
Hypertrichosis, Scoliosis, Kyphosis |
OMIM:618050 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Micropenis, Infertility, Type II diabetes mellitus, Absence of pubertal... |
ORPHA:398069 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Patchy alopecia, Kyphosis |
OMIM:141300 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Adrenal insufficiency, Decreased response to growth hormone stimulation... |
OMIM:176270 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... |
OMIM:240300 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Kyphosis |
OMIM:618291 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity, Scoliosis, Kyphosis |
OMIM:618443 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Hashimoto thyroiditis, Female infertility, Hyperconvex fingernails, Prematu... |
ORPHA:99226 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis |
OMIM:303350 |
Flynn-Aird Syndrome |
|
Cachexia, Type II diabetes mellitus, Alopecia, Primary adrenal insufficiency, Kyphosis, Abnormali... |
ORPHA:2047 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Infertility, Scoliosis, Kyphosis |
OMIM:614409 |
Leopard Syndrome 1 |
|
Hypospadias, Kyphoscoliosis, Hypoplasia of the ovary, Spina bifida occulta, Short neck, Aplasia o... |
OMIM:151100 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Kyphosis, Obesity, Short neck, Biliary tract abnormality, Scoliosis |
ORPHA:3191 |
Ovarian Fibroma |
|
Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal calcification, Mesenteric cyst |
ORPHA:314473 |
Cdkl5-Deficiency Disorder |
|
Synophrys, Scoliosis, Kyphosis |
ORPHA:505652 |
Cowden Syndrome |
|
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Failure to thrive, Pa... |
ORPHA:201 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Failure to thrive, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive, Kyphosis, Abnormality of the nai... |
ORPHA:349 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Abnormality of the gallbladder, Abnormality of mesentery m... |
ORPHA:2075 |
Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Failure to thrive, Sparse eyebrow, Kyphosis, Scoliosis |
OMIM:617988 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Kyphosis, Short neck, Hepatic steatosis, Generalized hirsutism, Scoliosis, Hypothyro... |
ORPHA:254346 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Short... |
OMIM:608776 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal deformities, Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Renal cyst, Kyphosis, Hepatic steatosis, Prema... |
OMIM:212065 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hepatomegaly, Polycystic ovaries, Renal cyst |
ORPHA:137675 |
Baralle-Macken Syndrome |
|
Obesity, Hirsutism, Kyphosis |
OMIM:619255 |
Clark-Baraitser syndrome |
|
Macroorchidism, Scoliosis, Obesity, Kyphosis |
OMIM:300602 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Broad eyebrow, Myelomeningocele, Small for gestational age, Failure to thrive, Kypho... |
ORPHA:94065 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hirsutism, Hepatic fibrosis, Truncal obesity, Hypogonadism, Vaginal atr... |
OMIM:209900 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Scoliosis, Kyphosis |
ORPHA:816 |
Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Anterior beaking of lumbar vertebrae, Kyphosis |
OMIM:230650 |
Hypomelanosis Of Ito |
|
Alopecia, Scoliosis, Kyphosis |
OMIM:300337 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplastic nipples, Hypertrichosis, Hepatic cysts, Hypoplasia of the ovary, Bicorn... |
ORPHA:79328 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Scoliosis, Obesity, Kyphosis |
OMIM:300431 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Hirsutism, Synophrys, Scoliosis, Kyphosis |
OMIM:300861 |
Marinesco-Sjogren Syndrome |
|
Failure to thrive, Kyphosis, Scoliosis, Hypergonadotropic hypogonadism |
OMIM:248800 |
Alström Syndrome |
|
Oligospermia, Hirsutism, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormon... |
ORPHA:64 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Abnormal hair pattern, Kyphosis, Hypogonadism, Scoliosis, Obesity, Short neck, Hypoplas... |
ORPHA:85293 |
Metatropic Dysplasia |
|
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, Sc... |
OMIM:156530 |
Alpha-Mannosidosis |
|
Hepatomegaly, Type II diabetes mellitus, Kyphosis, Splenomegaly, Short neck, Scoliosis |
ORPHA:61 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Kyphosis |
ORPHA:319199 |
Williams Syndrome |
|
Abnormal form of the vertebral bodies, Patent ductus arteriosus, Hypoplastic toenails, Abnormal f... |
ORPHA:904 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Scoliosis, Delayed puberty, Kyphosis |
OMIM:180870 |
Trisomy 13 |
|
Abnormal morphology of female internal genitalia, Patent ductus arteriosus, Kyphosis, Displacemen... |
ORPHA:3378 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Hirsutism, Hypertrichosis, Long penis, Low anterior hairline,... |
ORPHA:769 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:1354 |
Leprechaunism |
|
Hepatomegaly, Central hypothyroidism, Hypertrichosis, Long penis, Failure to thrive, Enlarged ova... |
ORPHA:508 |
Arthrogryposis, Distal, Type 4 |
|
Hypoplastic labia majora, Low anterior hairline, Kyphosis, Low posterior hairline, Scoliosis, Lum... |
OMIM:609128 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia |
ORPHA:244 |
Gm1 Gangliosidosis |
|
Hirsutism, Failure to thrive, Weight loss, Abnormal form of the vertebral bodies, Abnormality of ... |
ORPHA:354 |
Kleefstra Syndrome 2 |
|
Thick eyebrow, Scoliosis, Kyphosis |
OMIM:617768 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Meningocele, Abnormal intervertebral disk morphology, Abnormal morphology of female ... |
ORPHA:2311 |
Becker Nevus Syndrome |
|
Hypoplastic labia minora, Abnormality of the scrotum, Kyphosis, Spina bifida occulta, Scoliosis, ... |
ORPHA:64755 |
4Q21 Microdeletion Syndrome |
|
Long eyelashes, Kyphosis, Generalized hirsutism, Short neck, Scoliosis, Synophrys |
ORPHA:238750 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Hypopla... |
ORPHA:2635 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Scoliosis, Hypo... |
ORPHA:2916 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Obesity, Scoliosis, Puberty and gonadal disorders, Kyphosis |
ORPHA:464282 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of the ovary, Hepatic steatosis, Micropenis, Abdominal obesity, Decreased te... |
OMIM:619321 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Kyphosis, Male hypogonadism, Cryptorchidism, Scoliosis |
ORPHA:90322 |
Sialidosis Type 2 |
|
Hepatomegaly, Kyphosis, Splenomegaly |
ORPHA:87876 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Sparse hair, Scoliosis, Kyphosis |
OMIM:616449 |
Diastrophic Dysplasia |
|
Abnormal form of the vertebral bodies, Kyphosis, Hypoplastic cervical vertebrae, Cryptorchidism, ... |
ORPHA:628 |
Trisomy 20P |
|
Hypospadias, Macroorchidism, Highly arched eyebrow, Low anterior hairline, Abnormal form of the v... |
ORPHA:261318 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Kyphoscoliosis, Kyphosis, Hyperlordosis, Scoliosis |
ORPHA:536516 |
Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Oligomenorrhea, Hirsutism, Kyphosis, Pituitary adenoma, Vertebral com... |
OMIM:219090 |
Ruvalcaba Syndrome |
|
Kyphosis, Generalized hirsutism, Cryptorchidism, Scoliosis, Delayed puberty, Abnormality of verte... |
ORPHA:3121 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Streak ovary, Chordee, Kyphoscoliosis, Uterus didelphys, Urogenital sinus anomaly, C... |
OMIM:618820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis |
OMIM:606612 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Hirsutism, Anterior beaking of lower thoracic vertebrae, Coarse hair, Platyspondyly... |
OMIM:253220 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Harrod Syndrome |
|
Hypospadias, Failure to thrive, Kyphosis, Multicystic kidney dysplasia, Cryptorchidism, Scoliosis |
ORPHA:2115 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Failure to thrive, Slender build, Kyphosis, Spinal rigidity, Follicular hyperkeratosis, Scoliosis |
OMIM:254090 |
3M Syndrome |
|
Hypospadias, Kyphosis, Thick eyebrow, Hyperlordosis, Short neck, Scoliosis, Increased vertebral h... |
ORPHA:2616 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Central hypothyroidism, Failure to thrive in infancy, Streak ovary, Annular pancreas... |
ORPHA:798 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... |
ORPHA:91347 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Kyphosis |
OMIM:618237 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Hypertrichosis, Kyphosis |
OMIM:614898 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Short neck, Scoliosis, Spinal rigidity, Kyphosis |
ORPHA:75840 |
Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Kyphosis |
OMIM:130060 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Fused cervical vertebrae, Kyphosis, Hyperlordosis, Short neck |
ORPHA:2522 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Hypertrichosis, Beaking of vertebral bodies, Kyphosis, Splenomegaly, Hypoplastic ve... |
OMIM:230500 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Synophrys, Broad nail, Scoliosis, Kyphosis |
OMIM:300280 |
Lateral Meningocele Syndrome |
|
Meningocele, Biconcave vertebral bodies, Vertebral fusion, Coarse hair, Patent ductus arteriosus,... |
OMIM:130720 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Abnormal toenail morphology, Scoliosis, Hyperkeratosis, Sparse hair, Vertebra... |
ORPHA:1005 |
Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617435 |
Proteus Syndrome |
|
Ovarian neoplasm, Macroorchidism, Cachexia, Thymus hyperplasia, Diabetes insipidus, Long penis, N... |
ORPHA:744 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Hirsutism, Kyphosis, Splenomegaly, Scoliosis |
OMIM:607015 |
Sialidosis Type 1 |
|
Abnormal form of the vertebral bodies, Kyphosis, Splenomegaly, Hyperkeratosis, Scoliosis |
ORPHA:812 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Hyperlordosis, Palmar hyperkeratosis, High anterior hairline, Short neck, Scoliosis |
OMIM:314580 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
Mend Syndrome |
|
Cryptorchidism, Kyphosis |
OMIM:300960 |
2P15P16.1 Microdeletion Syndrome |
|
Fine hair, Failure to thrive, Long eyelashes, Kyphosis, Hypogonadism, Multicystic kidney dysplasi... |
ORPHA:261349 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
Rhizomelic Syndrome, Urbach Type |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal hair quantity, Kyphosis |
ORPHA:3098 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Scoliosis, Kyphosis |
OMIM:300676 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Patent ductus arteriosus, Kyphosis |
ORPHA:2655 |
16P13.2 Microdeletion Syndrome |
|
Failure to thrive, Kyphosis, Hypogonadism, Micropenis, Overweight, Cryptorchidism, Scoliosis |
ORPHA:500055 |
Alg1-Cdg |
|
Decreased liver function, Scoliosis, Kyphosis |
ORPHA:79327 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Kyphosis, Micropenis, Cryptorchidism, Scoliosis |
OMIM:609029 |
Mucolipidosis Iii Gamma |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:252605 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosi... |
OMIM:253000 |
Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:255200 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosi... |
OMIM:253010 |
Micro Syndrome |
|
Hypoplastic labia minora, Kyphosis, Generalized hirsutism, Clitoral hypoplasia, Cryptorchidism, H... |
ORPHA:2510 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3454 |
Koolen-De Vries Syndrome |
|
Hypospadias, Vertebral fusion, Hypopigmentation of hair, Kyphosis, Abnormality of hair texture, H... |
ORPHA:96169 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Kyphosis, Micropenis, Cryptorchidism, Scoliosis |
ORPHA:364028 |
Pycnodysostosis |
|
Spondylolysis, Decreased serum insulin-like growth factor 1, Ridged nail, Kyphosis, Spondylolisth... |
ORPHA:763 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Kyphosis |
OMIM:248760 |
Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Increased intervertebral space, Coro... |
ORPHA:93314 |
Trisomy 9P |
|
Fingernail dysplasia, Kyphosis, Sacral dimple, Hypoplastic fingernail, Hypoplastic toenails, Shor... |
ORPHA:236 |
Lateral Meningocele Syndrome |
|
Meningocele, Abnormal form of the vertebral bodies, Kyphosis, Short neck, Hyperlordosis, Low post... |
ORPHA:2789 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Small for gestational age, Failure to thrive, Patent ductus arteriosus, Kyphosi... |
OMIM:610443 |
Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Platyspondyly, Kyphosis |
OMIM:259440 |
Ramon Syndrome |
|
Enlarged labia minora, Hypertrichosis, Kyphosis, Hyperkeratosis, Decreased body weight, Scoliosis |
OMIM:266270 |
Cohen Syndrome |
|
Failure to thrive in infancy, Low anterior hairline, Long eyelashes, Kyphosis, Delayed puberty, T... |
ORPHA:193 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Low anterior hairline, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:404440 |
Desbuquois Dysplasia 1 |
|
Platyspondyly, Kyphosis, Hyperlordosis, Obesity, Short neck, Scoliosis |
OMIM:251450 |
3C Syndrome |
|
Hypospadias, Hemivertebrae, Kyphosis, Adrenal hypoplasia, Hypoplastic fingernail, Short neck, Hyp... |
ORPHA:7 |
Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Thick eyebrow, Spina bifida occulta, Scoliosis, ... |
ORPHA:3219 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Highly arched eyebrow, Long eyelashes, Kyphosis, Micropenis, Decreased body weight,... |
OMIM:619005 |
Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis |
ORPHA:137834 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Hepatomegaly, Biconcave vertebral bodies, Low anterior hairline, Failure to thrive, ... |
ORPHA:955 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Short neck, Scoliosis |
ORPHA:98863 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-shaped mound of bone i... |
OMIM:313400 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Scoliosis |
ORPHA:98855 |
Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Patent ductus arteriosus, Kyphosis |
ORPHA:93274 |
Marden-Walker Syndrome |
|
Hypospadias, Kyphosis, Micropenis, Cryptorchidism, Short neck, Scoliosis |
OMIM:248700 |
Cdags Syndrome |
|
Hypospadias, Sparse eyelashes, Rectovaginal fistula, Sparse scalp hair, Kyphosis, Rectourethral f... |
OMIM:603116 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Low anterior hairline, Kyphosis |
ORPHA:261222 |
Atypical Rett Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3095 |
Hurler Syndrome |
|
Biconcave vertebral bodies, Hepatomegaly, C1-C2 subluxation, Hirsutism, Kyphosis, Splenomegaly, H... |
OMIM:607014 |
Acro-Renal-Mandibular Syndrome |
|
Butterfly vertebrae, Hemivertebrae, Uterus didelphys, Kyphosis, Bicornuate uterus, Short neck, Sc... |
ORPHA:958 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Scoliosis, Cachexia, Kyphosis |
ORPHA:702 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Patent ductus arteriosus, Bicornuate uterus, Thyrog... |
ORPHA:2745 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Distal Tetrasomy 15Q |
|
Abnormal external genitalia, Patent ductus arteriosus, Kyphosis, Large for gestational age, Polyc... |
ORPHA:314588 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Obesity, Scoliosis |
ORPHA:98853 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Nodular goiter, Kyphosis, Medullary thyroid carcinoma, Thick eyebro... |
OMIM:162300 |
Achondroplasia |
|
Spinal canal stenosis, Thoracolumbar kyphosis, Kyphosis, Cervical spinal canal stenosis, Obesity,... |
ORPHA:15 |
Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Asplenia, Aplasia/Hypoplasia of the nails, Kyphosis, Cryptorchidism |
OMIM:619123 |
Crisponi Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1545 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Biliary tract obstruction, Splenomegaly, Cirrhosis, Kyphosis, Hypersplenism, Verteb... |
ORPHA:77259 |
Weaver Syndrome |
|
Fine hair, Thin nail, Kyphosis, Deep-set nails, Cryptorchidism, Sparse hair, Scoliosis, Hydrocele... |
OMIM:277590 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Hemivertebrae, Low anterior hairline, Decreased response to growth hormone st... |
OMIM:618223 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Kyphosis, Ovoid vertebral bodies, Splenomegaly, Short neck |
ORPHA:583 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Abnormality of the curvature of the vertebral column, Small for gestational age, Kyphoscoliosis, ... |
ORPHA:93360 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2181 |
Weismann-Netter Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Abnormality of the thyroid gland, Kyphosis |
ORPHA:3344 |
1P36 Deletion Syndrome |
|
Hypospadias, Abnormality of the spleen, Spinal canal stenosis, Annular pancreas, Failure to thriv... |
ORPHA:1606 |
Stickler Syndrome, Type I |
|
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Scol... |
OMIM:108300 |
Bruck Syndrome 1 |
|
Scoliosis, Platyspondyly, Vertebral wedging, Kyphosis |
OMIM:259450 |
Mgat2-Cdg |
|
Hirsutism, Hypoplastic nipples, Failure to thrive, Abnormality of the endocrine system, Long eyel... |
ORPHA:79329 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:261250 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cervical instability, Platyspondyly, Back pain, Kyphosis, Spinal rigidity, Short neck, Abnormally... |
ORPHA:94068 |
Schwartz-Jampel Syndrome |
|
Long eyelashes in irregular rows, Cachexia, Low anterior hairline, Abnormally straight spine, Pla... |
ORPHA:800 |
Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Platyspondyly, Atlantoaxial instability, Kyphosis, Hypoplasia of the... |
OMIM:607326 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis |
ORPHA:171436 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Abnormality of the vertebral column, Highly arched eyebrow, Abdominal situs inversus... |
ORPHA:280 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610489 |
Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies, Short neck, Hypoplasia... |
OMIM:183900 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormality of the vertebral column, Abdominal situs inversus, Abnormal intervertebral disk morph... |
ORPHA:2062 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis |
OMIM:607155 |
Brachyolmia Type 3 |
|
Short neck, Scoliosis, Platyspondyly, Kyphosis |
OMIM:113500 |
Pelger-Huet Anomaly |
|
Failure to thrive, Kyphosis |
OMIM:169400 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Thymic hormone decreased, Splenomegaly, Hypogonadism, Kyphosis, Micropeni... |
OMIM:216400 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Hypertrichosis, Kyphosis, Splenomegaly, Short neck |
OMIM:309900 |
2Q31.1 Microdeletion Syndrome |
|
Abnormal hair morphology, Low anterior hairline, Abnormality of the hypothalamus-pituitary axis, ... |
ORPHA:251014 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Kyphosis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:615512 |
Somatomammotropinoma |
|
Spinal canal stenosis, Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Synophrys... |
ORPHA:314769 |
Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Hepatomegaly, Cachexia, Slender build, Kyphosis, Hypogonadis... |
ORPHA:1328 |
Cono-Spondylar Dysplasia |
|
Short nail, Failure to thrive, Kyphosis, Short neck, Scoliosis |
ORPHA:420794 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Scoliosis, Kyphosis |
OMIM:301041 |
Pseudoachondroplasia |
|
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Atlantoaxial dislocation, Hypoplasia of the... |
OMIM:177170 |
Acromegaly |
|
Spinal canal stenosis, Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonad... |
ORPHA:963 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Male urethral meatus stenosis, Sparse eyebrow, Cholelithiasis, Kyphosis, Sparse scal... |
ORPHA:464738 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Small for gestational age, Failure to thrive, Renal cyst, Patent ductus arteriosus, ... |
ORPHA:464306 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Small for gestational age, Failure to thrive, Posterior pituitary hypoplasia, Renal ... |
ORPHA:464311 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Increased intervertebral space, Cervical instability, Abnormality of the cervical s... |
ORPHA:508533 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Small scrotum, Kyphosis, Hyperconvex fingerna... |
ORPHA:2215 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Pineal cyst, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Pineal cyst, Small for gestational age, Decreased response to growth hormone stimula... |
ORPHA:363958 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Long eyelashes, Patent ductus arteriosus, Kyphosis, Short neck, Micropenis, Sacral dimple, Clitor... |
OMIM:616894 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Irregular vertebral endplates, Abnormal form of the vertebral bodies, Kyphosis, Hypogonadism, Bil... |
ORPHA:3042 |
Bruck Syndrome |
|
Scoliosis, Platyspondyly, Kyphosis |
ORPHA:2771 |
Cockayne Syndrome B |
|
Hepatomegaly, Abnormal hair morphology, Dry hair, Small for gestational age, Kyphosis, Splenomega... |
OMIM:133540 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilat... |
ORPHA:69085 |
Campomelic Dysplasia |
|
Kyphosis, Ambiguous genitalia, Male pseudohermaphroditism, Short neck, Scoliosis, Poorly ossified... |
ORPHA:140 |
Microphthalmia, Lenz Type |
|
Hypospadias, Kyphosis, Hyperlordosis, Cryptorchidism, Scoliosis |
ORPHA:568 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:128100 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased serum insulin-like growth factor 1, Kyphosis, Pituitary adenoma, Hypopituitarism, Eleva... |
OMIM:300942 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:181405 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Platyspondyly, Kyphosis |
OMIM:616482 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphoscoliosis, Alopecia, Kyphosis, Sacral dimple, Diabetes mellitus, Thoracic scoliosis, Cryptor... |
ORPHA:536532 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hirsutism, Prominent protruding coccyx, Prominent coccyx, Kyphosis, Sacral dimple, Short neck, Sp... |
OMIM:300966 |
Rett Syndrome |
|
Cachexia, Scoliosis, Kyphosis |
OMIM:312750 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Platyspondyly, Kyphosis, Hyperlordosis, Short neck, Scoliosis |
ORPHA:582 |
Alexander Disease |
|
Failure to thrive, Kyphosis, Hyperlordosis, Scoliosis, Diabetes mellitus, Hypothyroidism, Short n... |
ORPHA:58 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the vertebral column, Thin fingernail, Abnormal hair morphology, Thin eyebrow, Abn... |
ORPHA:2273 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Hypoplastic nipples, Anterior clefting of vertebral bodies, Kyphosis, Fused cervical... |
OMIM:265000 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Patent ductus arteriosus, Kyphosis |
ORPHA:1860 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Scoliosis, Kyphosis |
OMIM:259420 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:79107 |
Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Thoracic kyphosis, Short neck, Hypoplasia o... |
OMIM:223800 |
Poland Syndrome |
|
Hypospadias, Hemivertebrae, Kyphosis, Abnormality of the liver, Short neck, Spina bifida occulta,... |
ORPHA:2911 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:261144 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Kyphoscoliosis, Sparse eyebrow,... |
ORPHA:3063 |
Spondyloenchondrodysplasia |
|
Hepatitis, Platyspondyly, Kyphosis, Hypothyroidism, Decreased response to growth hormone stimulat... |
ORPHA:1855 |
Holt-Oram Syndrome |
|
Scoliosis, Patent ductus arteriosus, Kyphosis |
ORPHA:392 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Synophrys, Scoliosis, Kyphosis |
ORPHA:476126 |
Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Hyperconvex fingernails, Hypoplastic fingernail,... |
ORPHA:192 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Failure to thrive in infancy, Small for gestational age, Chordee, Posterior pituitar... |
ORPHA:268261 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Highly arched eyebrow, Aplasia of the uterus, Vertebral fusion, Small for gestationa... |
OMIM:194190 |
Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Abnormality of the gallbladder, Hypopigmentation of hair, Abnormal form of the verte... |
ORPHA:818 |
Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Kyphosis |
ORPHA:85193 |
15Q14 Microdeletion Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:261190 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Sparse and thin eyebrow, Trichiasis, Kyphosis |
OMIM:609944 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis |
OMIM:603387 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Large for gestational age, Kyphosis, Ovarian fibroma, Short ... |
ORPHA:77301 |
Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Hypothyroidism, Kyphosis |
ORPHA:2479 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Abnormal penis morphology, External genital hypoplasia, Kyphosis, Hypogonadism, Hype... |
ORPHA:2658 |
Zttk Syndrome |
|
Broad eyebrow, Hemivertebrae, Failure to thrive, Sparse eyebrow, Patent ductus arteriosus, Kyphos... |
OMIM:617140 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplastic female external genitalia, Fingernail dysplasia, Alopecia, Long eyelashes, Kyphosis, ... |
ORPHA:1507 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Scoliosis, Kyphosis |
OMIM:617143 |
Non-Specific Syndromic Intellectual Disability |
|
Highly arched eyebrow, Small scrotum, Precocious puberty, Kyphosis, Decreased body weight, Fronta... |
ORPHA:528084 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Obesity, Scoliosis, Kyphosis |
OMIM:618493 |
Dysostosis, Stanescu Type |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:1798 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Kyphosis |
OMIM:616294 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Scoliosis, Kyphosis |
OMIM:211530 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Platyspondyly, Kyphosis |
OMIM:618476 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Abnormal hair morphology, Lumbar kyphosis, Coarse hair, Kyphosis, Uterine ... |
OMIM:303600 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Aplasia of the uterus, Hypertrichosis, Dry hair, Lumbosacral hirsutism, Hypoplastic ... |
OMIM:135900 |
Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Kyphosis |
OMIM:609008 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Kyphosis |
OMIM:609541 |
Primrose Syndrome |
|
Congenital hypothyroidism, Dystrophic fingernails, Irregular vertebral endplates, Truncal obesity... |
OMIM:259050 |
Mucolipidosis Type Ii |
|
Fine hair, Dry hair, White hair, Weight loss, Kyphosis, Splenomegaly, Hepatosplenomegaly |
ORPHA:576 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Failure to thrive, Hirsutism, Congenital hypothyroidism, Kyphosis |
OMIM:617527 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Broad eyebrow, Kyphoscoliosis, Slender build, Sparse eyebrow, Large for gestational age, Kyphosis... |
ORPHA:457359 |
Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Kyphosis |
ORPHA:88644 |
Classic Homocystinuria |
|
Hepatomegaly, Kyphosis, Elevated hepatic transaminase, Sparse scalp hair, Scoliosis |
ORPHA:394 |
Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis |
ORPHA:97349 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral fusion, Kyphosis, Fused cervical vertebrae, Cryptorchidism, Vert... |
ORPHA:1724 |
Marden-Walker Syndrome |
|
Hypospadias, Abnormal penis morphology, Failure to thrive, Abnormal form of the vertebral bodies,... |
ORPHA:2461 |
Cockayne Syndrome |
|
Fine hair, Hepatomegaly, Cachexia, Dry hair, Absence of pubertal development, Splenomegaly, Kypho... |
ORPHA:191 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:617821 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Pineal cyst, Kyphoscoliosis, Slender build, Patent ductus arteriosus, Kyphosis, Cryptorchidism, S... |
OMIM:300967 |
Oculocerebrorenal Syndrome Of Lowe |
|
Fine hair, Diabetes insipidus, Azoospermia, Failure to thrive, Platyspondyly, Kyphosis, Hyperpara... |
ORPHA:534 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Abnormality of the curvature of the vertebral column, Broad eyebrow, Bifid scrotum, ... |
OMIM:619475 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:88628 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis |
ORPHA:2050 |
Plaa-Associated Neurodevelopmental Disorder |
|
Failure to thrive, Hirsutism, Kyphosis |
ORPHA:521426 |
Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Kyphosis |
OMIM:258850 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Kyphosis, Cryptorchidism, High anterior hairline, Short neck, Scoliosis, Supernumerary nipple |
OMIM:619194 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Scoliosis, Abnormality of the thyroid gland, Kyphosis |
ORPHA:1969 |
Wrinkly Skin Syndrome |
|
Short nail, Failure to thrive, Kyphosis, Fragile nails, Cryptorchidism, Sparse hair, Scoliosis |
OMIM:278250 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Dry hair, Kyphosis, Splenomegaly, Elevated hepatic transaminase, Scoliosis, Prematu... |
ORPHA:90324 |
Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Spondylolysis, Beaking of vertebral bodies, Platyspondyly, Kyphosis... |
OMIM:208400 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Highly arched eyebrow, Intervertebral space narrowing, Coronal cleft vertebrae, Irregular vertebr... |
OMIM:143095 |
Occipital Horn Syndrome |
|
Hepatitis, Coarse hair, Platyspondyly, Kyphosis, Thick hair, Cholestasis, Scoliosis, Jaundice |
ORPHA:198 |
Mend Syndrome |
|
Failure to thrive, Cryptorchidism, Sacral dimple, Kyphosis |
ORPHA:401973 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Synophrys, Scoliosis, Kyphosis |
OMIM:619557 |
Spondyloperipheral Dysplasia |
|
Platyspondyly, Kyphosis |
OMIM:271700 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Hypospadias, Thin fingernail, Absent eyebrow, Absent eyelashes, Kyphosis |
ORPHA:85199 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Kyphosis |
OMIM:166220 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Precocious puberty, Kyphosis, Cryptorchidism, Pheochromocyto... |
ORPHA:636 |
Familial Osteodysplasia, Anderson Type |
|
Thick eyebrow, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis |
ORPHA:2769 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Scoliosis, Hyperlordosis, Sparse eyebrow, Kyphosis |
OMIM:617011 |
Osteogenesis Imperfecta, Type Viii |
|
Vertebral compression fracture, Scoliosis, Platyspondyly, Kyphosis |
OMIM:610915 |
Rett Syndrome, Congenital Variant |
|
Scoliosis, Kyphosis |
OMIM:613454 |
Sotos Syndrome |
|
Hypospadias, Small nail, Congenital posterior urethral valve, Abnormal vertebral morphology, Phim... |
ORPHA:821 |
Shprintzen Omphalocele Syndrome |
|
Decreased body weight, Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:182210 |
Marfan Syndrome |
|
Meningocele, Cachexia, Slender build, Kyphosis, Spondylolisthesis, Scoliosis |
ORPHA:558 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Kyphosis |
OMIM:249420 |
Branchiooculofacial Syndrome |
|
Hypospadias, Ectopic thymus tissue, Premature graying of hair, Renal cyst, Kyphosis, Short neck, ... |
OMIM:113620 |
Alkaptonuria |
|
Intervertebral disc degeneration, Vertebral fusion, Low back pain, Kyphosis |
OMIM:203500 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Back pain, Kyphosis |
OMIM:106300 |
Osteogenesis Imperfecta |
|
Biconcave vertebral bodies, Small for gestational age, Abnormal form of the vertebral bodies, Kyp... |
ORPHA:666 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Platyspondyly, Kyphosis, Cryptorchidism, Scoliosis |
OMIM:309000 |
Stickler Syndrome |
|
Spinal canal stenosis, Cachexia, Abnormal form of the vertebral bodies, Slender build, Platyspond... |
ORPHA:828 |
Occipital Horn Syndrome |
|
Coarse hair, Platyspondyly, Kyphosis |
OMIM:304150 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Kyphosis |
ORPHA:1393 |
Yunis-Varon Syndrome |
|
Hypospadias, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy, Sparse eyela... |
OMIM:216340 |
Cleidocranial Dysplasia |
|
Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis |
OMIM:119600 |
Pmm2-Cdg |
|
Hepatic fibrosis, Failure to thrive, Hypogonadotropic hypogonadism, Kyphoscoliosis, Platyspondyly... |
ORPHA:79318 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
17Q11 Microdeletion Syndrome |
|
Abnormality of the vertebral column, Elevated circulating parathyroid hormone level, Kyphosis, Be... |
ORPHA:97685 |
Viss Syndrome |
|
Butterfly vertebrae, Hirsutism, Failure to thrive, Alopecia, Patent ductus arteriosus, Kyphosis, ... |
OMIM:619472 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis |
OMIM:619482 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Lumbar hype... |
OMIM:300106 |