| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis, Anterior cervical hypertrichosis, Sacral hypertrichosis, Thoracic hypertrichosis,... |
OMIM:117850 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Ataxia, Kyphoscoliosis |
OMIM:136300 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai... |
OMIM:618658 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Impaired pain sensation |
ORPHA:101075 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Ataxia |
ORPHA:3363 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Winchester Syndrome |
|
Kyphosis, Hirsutism |
OMIM:277950 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Distal sensory impairment |
OMIM:617087 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Abnormal vertebral morphology, Spinal rigidity |
ORPHA:337 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Ataxia, Scoliosis, Impaired pain sensation |
ORPHA:101078 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Patchy alopecia, Ataxia, Poliosis |
OMIM:141300 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism |
ORPHA:85288 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Synophrys, Scoliosis, Hypertrichosis |
ORPHA:85317 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Scoliosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Synophrys, Scoliosis, Hirsutism |
OMIM:300861 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Kyphosis, Hypertrichosis |
OMIM:614898 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism, Scoliosis |
OMIM:300434 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow |
ORPHA:2429 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
| Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... |
OMIM:616455 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism |
ORPHA:2786 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Scoliosis |
OMIM:615704 |
| Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Scoliosis |
OMIM:300337 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Flynn-Aird Syndrome |
|
Alopecia, Ataxia, Impaired pain sensation, Kyphosis, Scoliosis |
ORPHA:2047 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Kyphosis, Impaired proprioception |
ORPHA:319199 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Ataxia, Scoliosis |
OMIM:616756 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Alopecia |
OMIM:203550 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Scoliosis, Impaired pain sensation |
ORPHA:505652 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Kyphosis, Dysmetria, Long eyelashes, Paresthesia, Scoliosis, Abnormality of the cervical ... |
ORPHA:48431 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia |
OMIM:620007 |
| Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Spina bifida occulta, Sparse body hair, Scoliosis |
ORPHA:177 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Long eyelashes, Scoliosi... |
ORPHA:3051 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Ataxia, Scoliosis, Impaired pain sensation |
ORPHA:99014 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Kyphosis, Low posterior hairline, Premature graying of hair, Vertebral se... |
ORPHA:2617 |
| Sandhoff Disease |
|
Kyphosis, Ataxia |
ORPHA:796 |
| Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Coronal cleft vertebrae, Alopecia, Kyphoscoliosis |
OMIM:215100 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair |
ORPHA:1883 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail |
ORPHA:317 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Kyphosis, Distal sensory impairment, Scoliosis |
OMIM:618124 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Kyphosis, Impaired vibration sensation in the lower limbs, Scoliosi... |
OMIM:614409 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Chorea |
OMIM:301080 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Distichiasis, Scoliosis |
ORPHA:2598 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Kyphoscoliosis |
OMIM:612079 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail |
OMIM:313420 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Scoliosis |
ORPHA:88630 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Ataxia, Nail dystrophy |
OMIM:616353 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis |
OMIM:615761 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Low back pain, Alopecia, Ataxia, Dysmetria |
OMIM:600142 |
| Kury-Isidor Syndrome |
|
Alopecia, Sacral dimple, Short neck, Scoliosis, Hypertrichosis |
OMIM:619762 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Dystrophic toenail, Nail dystrophy, Sp... |
ORPHA:3253 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Impaired temperature sensation |
ORPHA:100976 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnormal toenail morph... |
ORPHA:1005 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
| Monosomy 18P |
|
Alopecia, Low posterior hairline, Kyphoscoliosis, Short neck |
ORPHA:1598 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Scoliosis |
OMIM:135100 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Kyphoscoliosis, Supernumerary nipple, Hemivertebrae, Nail pits, Fine hair,... |
OMIM:308300 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Bresek Syndrome |
|
Alopecia, Hemivertebrae, Scoliosis |
ORPHA:85284 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Dysmetria, Fine hair, Choreoathetosis, ... |
OMIM:617988 |
| Baralle-Macken Syndrome |
|
Kyphosis, Hirsutism |
OMIM:619255 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Srd5A3-Cdg |
|
Ataxia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Hypertrichosis |
ORPHA:324737 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia |
ORPHA:1867 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Ataxia |
OMIM:275630 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta |
ORPHA:2983 |
| Adrenoleukodystrophy |
|
Alopecia, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia |
OMIM:300100 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Gait ataxia |
ORPHA:500180 |
| Mcdonough Syndrome |
|
Kyphosis, Synophrys, Scoliosis |
ORPHA:2471 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Highly arched eyebrow, Kyphosis, Thick eyebrow, Scoliosis |
OMIM:615834 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism |
ORPHA:238750 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired proprioception, Gait ... |
ORPHA:88628 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Abnormal vertebral morphology, Supernumerary nipple |
ORPHA:3224 |
| Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Frontal upsweep of hair, Scoliosis |
OMIM:619797 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair, Aplasia/Hypop... |
ORPHA:3082 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Impaired proprioception, Limb ataxia, Truncal ataxia |
ORPHA:412057 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Scoliosis, Short neck |
ORPHA:75840 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Kyphosis, Scoliosis |
ORPHA:352490 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia |
ORPHA:79242 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Ataxia |
OMIM:601853 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis |
ORPHA:3130 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ... |
ORPHA:35173 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
| Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Marinesco-Sjogren Syndrome |
|
Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:248800 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
| Sialidosis Type 2 |
|
Kyphosis, Ataxia |
ORPHA:87876 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Spinal canal stenosis |
OMIM:618282 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyebrow, ... |
ORPHA:2232 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:464282 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Thick eyebrow |
OMIM:300280 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... |
ORPHA:236 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Paresthesia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis |
OMIM:300918 |
| Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Hypoplastic toenail... |
ORPHA:544488 |
| Atypical Rett Syndrome |
|
Kyphosis, Impaired pain sensation, Scoliosis, Gait ataxia |
ORPHA:3095 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93160 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... |
ORPHA:2309 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Thin nail, Small nail |
OMIM:242100 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Ataxia, Fine hair, Premature graying of hair, Nail dysplasia |
OMIM:613990 |
| Ane Syndrome |
|
Alopecia, Kyphoscoliosis |
ORPHA:157954 |
| Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis |
ORPHA:64755 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Pain insensitivity, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of... |
OMIM:617061 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Low posterior h... |
ORPHA:2916 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Ataxia |
ORPHA:453533 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow, Scoliosis |
OMIM:613075 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Distal sensory impairment, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes |
OMIM:137940 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Thoracic scoliosis, Paresthesia, Low posterior hairline |
ORPHA:2959 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervical C2/C3 vertebral f... |
OMIM:617190 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Abnormal form of the vertebral bodies |
ORPHA:2067 |
| Sézary Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:3162 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
| Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Kyphoscoliosis, Absent eyelashes, ... |
OMIM:268400 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Kyphoscoliosis |
OMIM:163200 |
| Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
| Pelizaeus-Merzbacher Disease |
|
Choreoathetosis, Kyphosis, Ataxia, Scoliosis |
ORPHA:702 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Ataxia, Kyphosis, Dysmetria, Scoliosis |
ORPHA:88644 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Sialidosis Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Alstrom Syndrome |
|
Kyphosis, Alopecia, Scoliosis |
OMIM:203800 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... |
OMIM:607326 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Scoliosis, Thick eyebrow |
OMIM:618443 |
| Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
| Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline |
OMIM:314580 |
| Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... |
ORPHA:464 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Generalized hirsutism, Scoliosis |
ORPHA:3121 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies, Hyper... |
OMIM:230500 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
| Mogs-Cdg |
|
Alopecia, Thoracic scoliosis, Long eyelashes, Fair hair, Hirsutism |
ORPHA:79330 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia, Small nail |
ORPHA:166035 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Punctate vertebral calcifications, ... |
OMIM:302960 |
| Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Scoliosis, Nail dysplasia, Spars... |
OMIM:230740 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyph... |
ORPHA:536532 |
| Fountain Syndrome |
|
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... |
ORPHA:3219 |
| Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
| Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:3453 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:3191 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
| Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
| Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
| Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
| Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
| Leigh Syndrome |
|
Alopecia, Ataxia, Chorea, Choreoathetosis, Athetosis, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
| Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
| Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Short neck, Kyphosis, Low anterior hairline, Abnormal form of ... |
ORPHA:261318 |
| X-Linked Agammaglobulinemia |
|
Alopecia |
ORPHA:47 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Hypoplasia of the odonto... |
OMIM:253220 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Gait ataxia |
OMIM:300354 |
| Schaaf-Yang Syndrome |
|
Kyphosis, Thick eyebrow, Scoliosis |
OMIM:615547 |
| Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... |
OMIM:253010 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
| Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Scoliosis |
OMIM:108145 |
| Rett Syndrome |
|
Kyphosis, Truncal ataxia, Scoliosis, Gait ataxia |
OMIM:312750 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... |
ORPHA:37 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
| Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
| Gm1 Gangliosidosis |
|
Ataxia, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis,... |
ORPHA:354 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
| Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Scoliosis |
OMIM:614008 |
| 15Q24 Microdeletion Syndrome |
|
Kyphosis, Broad eyebrow, High anterior hairline, Scoliosis |
ORPHA:94065 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis |
ORPHA:98863 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Sparse eyelashes |
OMIM:610768 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Low anterior hairline |
ORPHA:261222 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis |
ORPHA:171436 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
| 19P13.12 Microdeletion Syndrome |
|
Short neck, Kyphosis, Synophrys, Scoliosis, Generalized hirsutism |
ORPHA:254346 |
| Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98855 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
| Giant Cell Arteritis |
|
Alopecia, Ataxia, Paresthesia |
ORPHA:397 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent co... |
OMIM:300966 |
| 3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Thick eyebrow |
ORPHA:2616 |
| Biotinidase Deficiency |
|
Alopecia, Ataxia |
OMIM:253260 |
| Hurler-Scheie Syndrome |
|
Kyphosis, Hirsutism, Scoliosis |
OMIM:607015 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis |
OMIM:620351 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Long eyelashes |
OMIM:618476 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98853 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low posterior hairlin... |
ORPHA:2789 |
| Noonan Syndrome 14 |
|
Curly hair, Short neck, Sparse eyebrow, Kyphosis, Low posterior hairline, Sparse hair |
OMIM:619745 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Kyphosis, Low anterior hairline, Scoliosis |
ORPHA:404440 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Ataxia |
OMIM:212750 |
| Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Ataxia, Scoliosis, Truncal ataxia |
OMIM:211530 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
| Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short neck |
ORPHA:3409 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Vertebral compression fracture, Hypertrichosis |
OMIM:263700 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Abnormality of hair texture, Kyphosis, Vertebral segm... |
ORPHA:96169 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Ataxia |
ORPHA:98907 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Alopecia, Short neck, Kyphosis, Vertebral segmentation defect, Long eyelashes, Fin... |
ORPHA:1507 |
| Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Scoliosis |
ORPHA:3378 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy |
ORPHA:90154 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Hirsutism, Biconcave vertebral bodies |
OMIM:219090 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Pain insensitivity, Scoliosis |
ORPHA:364028 |
| Cono-Spondylar Dysplasia |
|
Kyphosis, Short nail, Scoliosis, Short neck |
ORPHA:420794 |
| Cockayne Syndrome Type 2 |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:90322 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Low anterior hairline |
OMIM:619909 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormality of the nail, Paresthesia |
ORPHA:428 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia |
ORPHA:90153 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:254090 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| 3C Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Hypoplastic fingernail |
ORPHA:7 |
| Autosomal Dominant Robinow Syndrome |
|
Sacral dimple, Alopecia, Curly eyelashes, Short neck, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:3107 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Scoliosis |
ORPHA:85293 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia, Paresthesia |
ORPHA:97349 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Short neck, Absent eyelashes, Smal... |
OMIM:263650 |
| Pycnodysostosis |
|
Ridged nail, Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Nail dysplasia, Abnormality of th... |
ORPHA:763 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Coarse hair, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
| Leprosy |
|
Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ... |
ORPHA:548 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Kyphosis, Abnormal hair m... |
ORPHA:2273 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Kyphosis, Scoliosis |
OMIM:616449 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis, Ridged fingernail, Onychogryp... |
ORPHA:2215 |
| Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of the nail, Scoliosis |
ORPHA:2092 |
| Biotinidase Deficiency |
|
Alopecia, Ataxia |
ORPHA:79241 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Vertebral segmentation defect |
ORPHA:2612 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Highly arched eyebrow, Kyphosis, Supernumerary nipple, Scoliosis |
OMIM:619951 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertrichosis |
ORPHA:168569 |
| Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:2479 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Small nail, Scoliosis, Vertebral hypoplasia |
OMIM:308050 |
| Mixed Connective Tissue Disease |
|
Alopecia |
ORPHA:809 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
| Micro Syndrome |
|
Kyphosis, Generalized hirsutism, Scoliosis |
ORPHA:2510 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Alopecia universalis |
OMIM:606367 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervic... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervic... |
ORPHA:363958 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
| Cdags Syndrome |
|
Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair |
OMIM:603116 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Synophrys, Scoliosis, Gait ataxia |
ORPHA:476126 |
| Cohen Syndrome |
|
Thick hair, Abnormal eyelash morphology, Kyphosis, Low anterior hairline, Long eyelashes, Scolios... |
ORPHA:193 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis |
ORPHA:293978 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Athetosis, Scoliosis |
OMIM:613454 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Hyperconvex nail |
OMIM:258850 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Abnormality of hair texture, Kyphosis, Scoliosis, Fair hair, Spo... |
OMIM:610443 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism |
ORPHA:189427 |
| Emanuel Syndrome |
|
Kyphosis, Sacral dimple, Scoliosis |
OMIM:609029 |
| 2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Long eyelashes, Scoliosis |
ORPHA:261349 |
| Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Choreoathetosis, Fine hair |
OMIM:241080 |
| Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... |
OMIM:607014 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Kyphosis, Abnormal hair pattern, Scoliosis |
ORPHA:261250 |
| Fucosidosis |
|
Kyphosis, Abnormality of the nail, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Short neck |
OMIM:248700 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Hypoplastic toenails, Kyphosis, Synophrys, Abnormal hair morphology, Low anterior hai... |
ORPHA:251014 |
| Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Coarse hair, Sparse hair |
ORPHA:2750 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism |
ORPHA:90795 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Synophrys, Scoliosis |
OMIM:619557 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
| Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Hypoplasia of the odonto... |
OMIM:602535 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
| Phakomatosis Pigmentokeratotica |
|
Hyperesthesia, Patchy alopecia, Scoliosis |
ORPHA:2874 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
| Coffin-Lowry Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Scoliosis, Hypoplastic ... |
ORPHA:192 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
| Weaver Syndrome |
|
Deep-set nails, Thin nail, Kyphosis, Fine hair, Scoliosis, Sparse hair |
OMIM:277590 |
| Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
| Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Hypertrichosis, Short neck |
OMIM:309900 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Sparse eyebrow, Kyphosis, Trichiasis, Thin eyebrow |
OMIM:609944 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin... |
ORPHA:79474 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Pterygium of nails, Premature grayin... |
OMIM:305000 |
| Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
| Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Short neck, Absent eyelashes, Spar... |
OMIM:264090 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
| Alexander Disease |
|
Ataxia, Hyperlordosis, Short neck, Kyphosis, Chorea, Scoliosis |
ORPHA:58 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
| Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, ... |
ORPHA:800 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Alopecia, Short neck, Los... |
ORPHA:2636 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
| Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia |
ORPHA:90291 |
| Mgat2-Cdg |
|
Kyphosis, Long eyelashes, Hypoplastic nipples, Scoliosis, Hirsutism |
ORPHA:79329 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Impaired pain sensation, Kyphosis, Long eyelashes, Scoliosis |
OMIM:619005 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Kyphosis, Scoliosis |
OMIM:617602 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Atrichia... |
OMIM:308205 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Sparse eyebrow, Kyphosis, Gait ataxia, Scoliosis |
OMIM:617011 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Impaired pain sensation, Kyphosis, Frontal upsweep of hair, Scoliosis |
OMIM:176270 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Hypopigmentation of hair, Scoliosis, Impaired temperature sensation |
ORPHA:398069 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys... |
ORPHA:955 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis, Hypertrichosis |
OMIM:618050 |
| Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Low anterior hairline, Scoliosis |
OMIM:618223 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse eyebrow, Kyphosis, Sparse scalp hair, Scoliosis |
ORPHA:464738 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
| Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Chorea |
ORPHA:1855 |
| Xeroderma Pigmentosum |
|
Alopecia, Ataxia |
ORPHA:910 |
| Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
| Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism |
ORPHA:2298 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Highly arched eyebrow, Kyphosis, Abnormal form of the vertebral bodies, Lo... |
ORPHA:280 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221008 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis |
OMIM:162300 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Ataxia, Dysmetria |
OMIM:619708 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Hypoplastic nipples, Sco... |
OMIM:265000 |
| Ramon Syndrome |
|
Kyphosis, Scoliosis, Hypertrichosis |
OMIM:266270 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis |
OMIM:301040 |
| Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Ataxia, Dysmetria |
OMIM:212065 |
| Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221016 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Distal Triplication 15Q |
|
Kyphosis, Scoliosis |
ORPHA:314588 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Hirsutism |
OMIM:617527 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Hirsutism |
ORPHA:521426 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Poster... |
ORPHA:3042 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... |
ORPHA:99413 |
| Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... |
ORPHA:99226 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the nails |
OMIM:619123 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:500055 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait ataxia, Broad eyebrow |
ORPHA:457359 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis, Sparse eyebrow... |
OMIM:143095 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Kyphosis, Long eyelashes, Scoliosis |
OMIM:616894 |
| Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Dysmetria |
OMIM:620185 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
| Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
| Systemic Lupus Erythematosus |
|
Alopecia, Chorea |
ORPHA:536 |
| Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Kyphosis, Distichiasis |
OMIM:153400 |
| Classic Homocystinuria |
|
Kyphosis, Sparse scalp hair, Scoliosis |
ORPHA:394 |
| Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Dysdiadochokinesis, Dysmetria |
ORPHA:171629 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail |
ORPHA:79404 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia |
ORPHA:227990 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Sacral dimple, Dry hair, Kyphosis, Hypoplastic fifth fingernail, Gait ataxia, ... |
OMIM:135900 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Kyphosis, Absent eyebrow, Thin fingernail |
ORPHA:85199 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia |
ORPHA:227982 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Cockayne Syndrome B |
|
Dry hair, Ataxia, Abnormal hair morphology, Kyphosis, Sparse hair |
OMIM:133540 |
| Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Short neck, Kyphosis, Scoliosis, High anterior hairline |
OMIM:619194 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
| Mucolipidosis Type Ii |
|
Kyphosis, Dry hair, White hair, Fine hair |
ORPHA:576 |
| X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Kyphosis, Synophrys, Kyphoscoliosis |
ORPHA:3063 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Short neck |
ORPHA:96176 |
| Acromegaly |
|
Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Paresthesia, Abnormal... |
ORPHA:963 |
| Somatomammotropinoma |
|
Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Paresthesia, Abnormal... |
ORPHA:314769 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
| Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
| Cockayne Syndrome A |
|
Sparse hair, Kyphosis, Dry hair, Ataxia |
OMIM:216400 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Ataxia |
ORPHA:50918 |
| Steinert Myotonic Dystrophy |
|
Early balding, Alopecia |
ORPHA:273 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Breast hypoplasia, Scoliosis |
ORPHA:464306 |
| African Trypanosomiasis |
|
Alopecia, Somatic sensory dysfunction, Impaired proprioception, Choreoathetosis, Paresthesia |
ORPHA:3385 |
| Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Coarse hair, Pili torti |
OMIM:304150 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sparse hair, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
| Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Short neck |
ORPHA:77301 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
| Poland Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Low posterior hairline, Vertebral segmentation defect, Scoli... |
ORPHA:2911 |
| Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture,... |
ORPHA:666 |
| Camurati-Engelmann Disease |
|
Ataxia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis |
ORPHA:1328 |
| Zttk Syndrome |
|
Curly hair, Sparse eyebrow, Kyphosis, Hemivertebrae, Scoliosis, Broad eyebrow |
OMIM:617140 |
| Cockayne Syndrome |
|
Dry hair, Somatic sensory dysfunction, Ataxia, Kyphosis, Fine hair, Progressive gait ataxia, Scol... |
ORPHA:191 |
| Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Short neck, Abnormal eyelash morphology, Kyphosis, Abnormal form of the... |
ORPHA:818 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Broad eyebrow, Ataxia, Kyphosis, Synophrys, Abnormal curvature of the vertebral column... |
OMIM:619475 |
| Occipital Horn Syndrome |
|
Thick hair, Kyphosis, Platyspondyly, Coarse hair, Scoliosis |
ORPHA:198 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464311 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Kyphosis, Dry hair, Scoliosis |
ORPHA:90324 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Ataxia, Kyphosis, Paresthesia, Scoliosis |
ORPHA:636 |
| Viss Syndrome |
|
Sparse scalp hair, Alopecia, Kyphosis, Scoliosis, Butterfly vertebrae, Hirsutism |
OMIM:619472 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
| Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis... |
OMIM:303600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Kyphoscoliosis, Ataxia, Scoliosis |
OMIM:300967 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Ataxia, Kyphosis, Breast aplasia, Scoliosis |
ORPHA:268261 |
| Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Kyphosis, Fine hair, Platyspondyly, Scoliosis |
ORPHA:534 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys... |
ORPHA:740 |
| Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperconvex fingernails, Kyphosis, Scoliosis, Hypoplastic fingernail |
ORPHA:2658 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia |
OMIM:619321 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Hypoplastic nipples, Scoliosis,... |
OMIM:305600 |
| Primrose Syndrome |
|
Sparse scalp hair, Ataxia, Absent facial hair, Kyphosis, Synophrys, Irregular vertebral endplates... |
OMIM:259050 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Onycholysis, Nail dystrophy |
ORPHA:99921 |
| Cowden Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:201 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Highly arched eyebrow, Kyphosis, Abnormal form of the vertebral ... |
OMIM:194190 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Kyphosis, Spinal canal stenosis, Horizontal eyebrow, Scoliosis, Gene... |
ORPHA:1606 |
| Aspartylglucosaminuria |
|
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis |
OMIM:208400 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
| Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Sacral dimple, Alopecia, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse ... |
OMIM:601803 |
| Wrinkly Skin Syndrome |
|
Short nail, Kyphosis, Scoliosis, Sparse hair, Fragile nails |
OMIM:278250 |
| Mend Syndrome |
|
Kyphosis, Sacral dimple |
ORPHA:401973 |
| Mend Syndrome |
|
Kyphosis, Sacral dimple |
OMIM:300960 |
| Stickler Syndrome |
|
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:828 |
| Sarcoidosis |
|
Alopecia |
ORPHA:797 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Low posterior hairline, Premature gray... |
OMIM:113620 |
| Williams Syndrome |
|
Sacral dimple, Abnormal fingernail morphology, Ataxia, Hyperlordosis, Hypoplastic toenails, Kypho... |
ORPHA:904 |
| Marfan Syndrome |
|
Kyphosis, Scoliosis, Spondylolisthesis |
ORPHA:558 |
| Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
| Proteus Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormality of the nail, Generalized ... |
ORPHA:744 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... |
ORPHA:286 |
| Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:309000 |
| 17Q11 Microdeletion Syndrome |
|
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis |
ORPHA:97685 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Sparse eyelashes, Anterior concavity of thoracic vertebrae, Spa... |
OMIM:216340 |
| Sotos Syndrome |
|
Sacrococcygeal teratoma, Kyphosis, Sparse anterior scalp hair, Small nail, Scoliosis, Abnormal ve... |
ORPHA:821 |
| Alström Syndrome |
|
Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Frontal balding, Kyphosis, Fine hair, Lu... |
ORPHA:64 |
