| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Alopecia, Sparse hair |
OMIM:212835 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Thoracic hypertrichosis, Kyphoscoliosis, Anterior cervical hypertrichosis,... |
OMIM:117850 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| 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 |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Distal sensory impairment, Scoliosis, Kyphosis |
OMIM:617087 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Flynn-Aird Syndrome |
|
Ataxia, Kyphoscoliosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:610743 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... |
ORPHA:40 |
| Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... |
OMIM:271530 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
| Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Scoliosis, Kyphosis |
ORPHA:101075 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis |
OMIM:300718 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Scoliosis, Sparse body hair |
ORPHA:2850 |
| Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Sparse hair, Long eyelashes, Alopecia |
OMIM:275400 |
| Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
| Hemifacial Atrophy, Progressive |
|
Poliosis, Ataxia, Patchy alopecia, Kyphosis |
OMIM:141300 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Scoliosis, Kyphosis |
ORPHA:101078 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Kyphosis |
ORPHA:85288 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Ataxia, Alopecia, Low back pain |
OMIM:600142 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Kyphosis, Ataxia, Scoliosis, Synophrys |
ORPHA:85317 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis, Alopecia |
OMIM:612079 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair |
ORPHA:2251 |
| Zimmermann-Laband Syndrome 3 |
|
Small nail, Hypertrichosis, Low anterior hairline, Absent toenail, Facial hypertrichosis, Long ey... |
OMIM:618658 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... |
ORPHA:2890 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Platyspondyly, Albinism, Kyphosis |
ORPHA:2786 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis |
OMIM:609384 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Scoliosis, Kyphosis |
OMIM:618323 |
| Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp |
ORPHA:346 |
| Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Hirsutism, Kyphosis, Ataxia, Scoliosis, Synophrys |
OMIM:300861 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Thick hair, Thick eyebrow, Low posterior hairline, Scoliosis, Synophrys |
ORPHA:2429 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... |
ORPHA:1882 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hirsutism, Scoliosis, Kyphosis |
OMIM:300434 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Hypertrichosis, Kyphosis |
OMIM:614898 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia |
OMIM:614564 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Alopecia, Scoliosis |
OMIM:615704 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Hypomelanosis Of Ito |
|
Alopecia, Scoliosis, Kyphosis |
OMIM:300337 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Flynn-Aird Syndrome |
|
Impaired pain sensation, Alopecia, Kyphosis, Ataxia, Scoliosis |
ORPHA:2047 |
| Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Ataxia, Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Alopecia |
OMIM:203550 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia |
OMIM:618373 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired proprioception, Impaired vibratory sensation, Kyphosis |
ORPHA:319199 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Alopecia |
OMIM:617763 |
| Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Scoliosis, Sparse body hair, Alopecia |
ORPHA:177 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:600175 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Scoliosis, Kyphosis |
ORPHA:99014 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Paresthesia, Dysmetria, Long eyelashes, Abnormality of the cervical spine, Kyphosis, Ataxia, Scol... |
ORPHA:48431 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Alopecia of scalp, Abnormal hair quantity, Kyphosis, Low posterior hairline, Vertebral segmentati... |
ORPHA:2617 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Alopecia totalis |
OMIM:212360 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Kyphosis, Sparse hair, Scoliosis |
ORPHA:1883 |
| Zimmermann-Laband Syndrome 2 |
|
Long eyelashes, Kyphosis, Thick eyebrow, Short neck, Widow's peak, Synophrys |
OMIM:616455 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Nail dystrophy, Alopecia |
ORPHA:79397 |
| Fibrodysplasia Ossificans Progressiva |
|
Spinal rigidity, Alopecia, Abnormal vertebral morphology |
ORPHA:337 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Alopecia, Coronal cleft vertebrae |
OMIM:215100 |
| Sandhoff Disease |
|
Ataxia, Kyphosis |
ORPHA:796 |
| Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia |
OMIM:129540 |
| Erythrokeratodermia Variabilis |
|
Abnormality of the nail, Alopecia, Abnormal hair morphology, Generalized hirsutism |
ORPHA:317 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Cdkl5-Deficiency Disorder |
|
Synophrys, Impaired pain sensation, Scoliosis, Kyphosis |
ORPHA:505652 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse h... |
ORPHA:3051 |
| Schöpf-Schulz-Passarge Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia |
OMIM:607823 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Scoliosis, Kyphosis |
OMIM:617190 |
| Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Anterior beaking of lumbar vertebrae, Kyphosis |
OMIM:230650 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... |
ORPHA:2325 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis |
OMIM:618234 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Abnormality of the nail, Thoracolumbar scoliosis, Platyspondyly, Kyphosis |
OMIM:313420 |
| Idiopathic Trachyonychia |
|
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Fragil... |
ORPHA:79153 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Distichiasis, Scoliosis, Kyphosis |
ORPHA:2598 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal toenail morphology, Alopecia, Abnormality of the nail |
ORPHA:494 |
| Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Choreoathetosis, Dysmetria, Sparse eyebrow, Kyphosis, Gait ataxia, Scoliosis |
OMIM:617988 |
| Cronkhite-Canada Syndrome |
|
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... |
ORPHA:2930 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... |
OMIM:612843 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Synophrys, Thick eyebrow, Kyphosis |
OMIM:617061 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair |
OMIM:614594 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Limb dysmetria, Impaired vibration sensation in the lower limbs, Kyphosis, ... |
OMIM:614409 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Mental Retardation, Autosomal Dominant 26 |
|
Thick eyebrow, Highly arched eyebrow, Scoliosis, Kyphosis |
OMIM:615834 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis |
OMIM:303350 |
| Kleefstra Syndrome 2 |
|
Thick eyebrow, Scoliosis, Kyphosis |
OMIM:617768 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis |
OMIM:301900 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... |
ORPHA:2269 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
| Mental Retardation, Autosomal Dominant 57 |
|
Hypertrichosis, Scoliosis, Kyphosis |
OMIM:618050 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair |
OMIM:242300 |
| Bathing Suit Ichthyosis |
|
Nail dystrophy, Impaired temperature sensation, Sparse hair, Alopecia |
ORPHA:100976 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Kyphosis |
OMIM:618393 |
| Fibrodysplasia Ossificans Progressiva |
|
Progressive cervical vertebral spine fusion, Small cervical vertebral bodies, Alopecia, Scoliosis |
OMIM:135100 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low anterior hairline, Kyphosis, Sacral dimple, Hyperlordosis, Scoliosis, Synophrys |
OMIM:615761 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Kyphosis |
OMIM:618291 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:1354 |
| Metatropic Dysplasia |
|
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, Sc... |
OMIM:156530 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Scoliosis, Kyphosis |
OMIM:618443 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... |
ORPHA:3253 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Kyphosis, Abnormal toenail morphology, Scoliosis, Sparse hair, Vertebral segmentation d... |
ORPHA:1005 |
| Monosomy 18P |
|
Low posterior hairline, Short neck, Alopecia, Kyphoscoliosis |
ORPHA:1598 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair |
ORPHA:69735 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormality of the nail |
ORPHA:2584 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
| Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
| Bresek Syndrome |
|
Alopecia, Scoliosis, Hemivertebrae |
ORPHA:85284 |
| Multiple Carboxylase Deficiency |
|
Ataxia, Alopecia |
ORPHA:148 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Scoliosis, Kyphosis |
OMIM:611890 |
| Baralle-Macken Syndrome |
|
Hirsutism, Kyphosis |
OMIM:619255 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Hypopla... |
ORPHA:2635 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia |
ORPHA:1867 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3454 |
| Chanarin-Dorfman Syndrome |
|
Ataxia, Alopecia |
OMIM:275630 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Thin nail, Small nail, Abnormal hair morphology, Alopecia |
OMIM:242100 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia |
OMIM:618282 |
| Srd5A3-Cdg |
|
Hypertrichosis, Abnormal sacrum morphology, Ataxia, Kyphosis |
ORPHA:324737 |
| Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis |
OMIM:240150 |
| 4Q21 Microdeletion Syndrome |
|
Long eyelashes, Kyphosis, Generalized hirsutism, Short neck, Scoliosis, Synophrys |
ORPHA:238750 |
| Ck Syndrome |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:300831 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Mcdonough Syndrome |
|
Synophrys, Scoliosis, Kyphosis |
ORPHA:2471 |
| Widow'S Peak Syndrome |
|
Widow's peak, Kyphosis |
OMIM:314570 |
| Renpenning Syndrome |
|
Alopecia, Abnormal hair laboratory examination, Thin eyebrow |
ORPHA:3242 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Nail dystrophy, Alopecia, Abs... |
OMIM:308205 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
| Hall-Riggs Mental Retardation Syndrome |
|
Kyphosis, Scoliosis, Platyspondyly, Irregular vertebral endplates |
OMIM:234250 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Limb ataxia, Alopecia, Truncal ataxia |
OMIM:300100 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Hemivertebrae, Punctate vertebral calcifications, Alopecia, Sparse and thin eye... |
OMIM:302960 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Coarse hair |
ORPHA:75389 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Thick hair, Alopecia, Sparse hair |
OMIM:607626 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Uncombable hair, Short neck, Kyphosis, Slow-growing hair, Aplasia/Hypop... |
ORPHA:3082 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-shaped mound of bone i... |
OMIM:313400 |
| Frontonasal Dysplasia 2 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia |
OMIM:613451 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple, Abnormal vertebral morphology |
ORPHA:3224 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Positive Romberg sign, Kyphosis, Impaired vibration sensation in the low... |
ORPHA:88628 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:178148 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Lichen Planopilaris |
|
Abnormal fingernail morphology, Alopecia, Onycholysis |
ORPHA:525 |
| Macs Syndrome |
|
Sparse and thin eyebrow, Sparse hair, Scoliosis, Alopecia |
OMIM:613075 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... |
ORPHA:978 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis |
OMIM:606612 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Kyphosis |
OMIM:130060 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Impaired proprioception, Limb ataxia, Alopecia, Truncal ataxia |
ORPHA:412057 |
| Rhizomelic Syndrome, Urbach Type |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal hair quantity, Kyphosis |
ORPHA:3098 |
| Mucolipidosis Iii Gamma |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:252605 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Nail dystrophy, Alopecia, Ataxia, Sparse hair, Premature graying of hair, Nail pits |
OMIM:127550 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Alopecia |
ORPHA:79242 |
| Brachyolmia Type 3 |
|
Short neck, Scoliosis, Platyspondyly, Kyphosis |
OMIM:113500 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia |
ORPHA:2316 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:147770 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Synophrys, Broad nail, Scoliosis, Kyphosis |
OMIM:300280 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Scoliosis, Kyphosis |
ORPHA:352490 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail |
ORPHA:79394 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Platyspondyly, Kyphosis |
OMIM:259440 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Spinal deformities, Kyphoscoliosis, Coarse hair, Sparse eyebrow, Abnormal hair ... |
ORPHA:35173 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Chorea, Gait ataxia, Impaired pain sensation, Kyphosis |
ORPHA:500180 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:248800 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Short neck, Scoliosis, Spinal rigidity, Kyphosis |
ORPHA:75840 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Scoliosis, Kyphosis |
ORPHA:464282 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617435 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal deformities, Spinal rigidity, Kyphosis |
OMIM:615084 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Kyphosis |
OMIM:618484 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Kyphosis, Low posterior hairline, Short neck, Spina bifida occulta, Synophrys |
ORPHA:2983 |
| Trisomy 9P |
|
Fingernail dysplasia, Kyphosis, Sacral dimple, Hypoplastic fingernail, Hypoplastic toenails, Shor... |
ORPHA:236 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
OMIM:137940 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Abnormal hair morphology, Hyperlordosis, Sparse or absent eyelashes |
ORPHA:3130 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Scoliosis, Kyphosis |
OMIM:616449 |
| Arthrogryposis, Distal, Type 4 |
|
Low anterior hairline, Kyphosis, Low posterior hairline, Scoliosis, Lumbar scoliosis |
OMIM:609128 |
| Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Alopecia |
OMIM:601853 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Kyphosis |
OMIM:248760 |
| Sialidosis Type 2 |
|
Ataxia, Kyphosis |
ORPHA:87876 |
| Sjögren-Larsson Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:816 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Alopecia of scalp, Alopecia, Sparse pubic hair, Kyphosis, Abnormal eyebrow mo... |
ORPHA:2232 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Mandibulofacial Dysostosis With Alopecia |
|
Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
OMIM:616367 |
| Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Subungual hyperkeratosis |
OMIM:300918 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal form of the vertebral bodies, Scoliosis, Alopecia |
ORPHA:93160 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:255200 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
| Gapo Syndrome |
|
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Nail dysplasia, Bre... |
OMIM:230740 |
| Atypical Rett Syndrome |
|
Gait ataxia, Scoliosis, Impaired pain sensation, Kyphosis |
ORPHA:3095 |
| Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Kyphosis |
ORPHA:85193 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Alopecia, Paresthesia |
OMIM:175500 |
| Bruck Syndrome 1 |
|
Scoliosis, Platyspondyly, Vertebral wedging, Kyphosis |
OMIM:259450 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Hypoplastic ver... |
ORPHA:2916 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse eyelashes, Small nail, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sacral ... |
ORPHA:544488 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails |
OMIM:261990 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Fragile nails |
OMIM:242150 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Increased intervertebral space, Coro... |
ORPHA:93314 |
| Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Supernumerary nipple, Kyphosis |
ORPHA:64755 |
| Mucopolysaccharidosis, Type Vii |
|
Hirsutism, Anterior beaking of lower thoracic vertebrae, Coarse hair, Platyspondyly, Thoracolumba... |
OMIM:253220 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis |
ORPHA:2522 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Alopecia, Ataxia, Nail dysplasia, Premature graying of hair |
OMIM:613990 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail |
OMIM:609638 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
| Gapo Syndrome |
|
Sparse eyelashes, Early balding, Alopecia, Abnormal form of the vertebral bodies, Sparse and thin... |
ORPHA:2067 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:536516 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Thoracic scoliosis, Low posterior hairline, Alopecia, Paresthesia |
ORPHA:2959 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Distal sensory impairment, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:181405 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Platyspondyly, Atlantoaxial instability, Kyphosis, Hypoplasia of the... |
OMIM:607326 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Scoliosis, Abnormal hair quantity |
ORPHA:457059 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:128100 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Alopecia, Onychogryposis |
ORPHA:79395 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Sparse hair, Alopecia |
ORPHA:659 |
| Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... |
OMIM:129400 |
| Hurler-Scheie Syndrome |
|
Hirsutism, Scoliosis, Kyphosis |
OMIM:607015 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture |
OMIM:608612 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2181 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Dysmetria, Kyphosis, Ataxia, Impaired vibratory sensation, Scoliosis |
ORPHA:88644 |
| Ane Syndrome |
|
Kyphoscoliosis, Alopecia |
ORPHA:157954 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Sparse eyelashes, Nail dystrophy, Kyphoscoliosis, Sparse eyebrow, Alopecia, Absent eyebrow, Absen... |
OMIM:268400 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis |
ORPHA:3085 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Scoliosis, Choreoathetosis, Kyphosis |
ORPHA:702 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal deformities, Spinal rigidity, Kyphosis |
ORPHA:352447 |
| Gm1-Gangliosidosis, Type I |
|
Hypertrichosis, Beaking of vertebral bodies, Kyphosis, Hypoplastic vertebral bodies, Short neck, ... |
OMIM:230500 |
| Sézary Syndrome |
|
Nail dystrophy, Alopecia |
ORPHA:3162 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Kyphoscoliosis, Alopecia |
OMIM:163200 |
| Alpha-Mannosidosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:61 |
| Bruck Syndrome |
|
Scoliosis, Platyspondyly, Kyphosis |
ORPHA:2771 |
| Ruvalcaba Syndrome |
|
Scoliosis, Generalized hirsutism, Abnormality of vertebral epiphysis morphology, Kyphosis |
ORPHA:3121 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Ruvalcaba Syndrome |
|
Scoliosis, Kyphosis |
OMIM:180870 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Paronychia, Onychog... |
ORPHA:2309 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Sialidosis Type 1 |
|
Ataxia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis |
ORPHA:812 |
| Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Thick eyebrow, Spina bifida occulta, Scoliosis, ... |
ORPHA:3219 |
| Alstrom Syndrome |
|
Alopecia, Scoliosis, Kyphosis |
OMIM:203800 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Diastrophic Dysplasia |
|
Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical vertebrae, Kyphosis |
ORPHA:628 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis |
OMIM:300676 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Impaired temperature sensation, Kyphoscoliosis, Alopecia, Kyphosis, Sacral dimple, Thoracic scoli... |
ORPHA:536532 |
| Wieacker-Wolff Syndrome |
|
Kyphosis, Hyperlordosis, High anterior hairline, Short neck, Scoliosis |
OMIM:314580 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:3191 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis |
ORPHA:137834 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
| Trisomy 20P |
|
Highly arched eyebrow, Low anterior hairline, Abnormal form of the vertebral bodies, Coarse hair,... |
ORPHA:261318 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal fingernail morphology, Alopecia |
ORPHA:3453 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
| Incontinentia Pigmenti |
|
Broad nail, Abnormal hair morphology, Dystrophic toenail, Alopecia, Abnormal toenail morphology, ... |
ORPHA:464 |
| Stickler Syndrome, Type I |
|
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Scol... |
OMIM:108300 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Sparse hair |
ORPHA:974 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis |
OMIM:607155 |
| Clark-Baraitser syndrome |
|
Scoliosis, Kyphosis |
OMIM:300602 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Absent eyebrow, Absent eyelashes, Alopecia |
ORPHA:166035 |
| Crisponi Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1545 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia |
OMIM:158310 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Alopecia |
ORPHA:453533 |
| Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
| Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... |
ORPHA:1234 |
| Schaaf-Yang Syndrome |
|
Thick eyebrow, Scoliosis, Kyphosis |
OMIM:615547 |
| Mogs-Cdg |
|
Hirsutism, Alopecia, Long eyelashes, Thoracic scoliosis, Fair hair |
ORPHA:79330 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies, Short neck, Hypoplasia... |
OMIM:183900 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Kyphosis |
OMIM:300354 |
| Weismann-Netter Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis |
ORPHA:3344 |
| X-Linked Agammaglobulinemia |
|
Alopecia |
ORPHA:47 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cervical instability, Platyspondyly, Back pain, Kyphosis, Spinal rigidity, Short neck, Abnormally... |
ORPHA:94068 |
| Mucopolysaccharidosis, Type Iva |
|
Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosis, Hypoplasia ... |
OMIM:253000 |
| Gm1 Gangliosidosis |
|
Hirsutism, Abnormal form of the vertebral bodies, Platyspondyly, Kyphosis, Ataxia, Hyperlordosis,... |
ORPHA:354 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Kyphosis |
OMIM:300431 |
| Mucopolysaccharidosis, Type Ivb |
|
Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosis, Hypoplasia ... |
OMIM:253010 |
| Leigh Syndrome |
|
Athetosis, Hypertrichosis, Choreoathetosis, Chorea, Alopecia, Ataxia, Frontal hirsutism |
ORPHA:506 |
| Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Hemivertebrae, Ridged nai... |
OMIM:308300 |
| Rett Syndrome |
|
Gait ataxia, Scoliosis, Truncal ataxia, Kyphosis |
OMIM:312750 |
| Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
| Alg1-Cdg |
|
Scoliosis, Kyphosis |
ORPHA:79327 |
| Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Alopecia, Absent eyebrow, Vertebral compression fracture, Loss of eyelashes |
OMIM:263700 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Spina b... |
ORPHA:2311 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, Paronychia, Ridged f... |
ORPHA:37 |
| Omenn Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia |
ORPHA:39041 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| Mandibuloacral Dysplasia |
|
Hypoplastic fingernail, Sparse hair, Alopecia |
ORPHA:2457 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Platyspondyly, Kyphosis |
OMIM:618476 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Alopecia |
ORPHA:228390 |
| Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Alopecia |
ORPHA:1647 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Nail dystrophy, Alopecia |
OMIM:240300 |
| Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis |
ORPHA:171436 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis |
ORPHA:98863 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Low anterior hairline, Kyphosis |
ORPHA:261222 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Scoliosis |
ORPHA:98855 |
| Pseudoachondroplasia |
|
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Atlantoaxial dislocation, Hypoplasia of the... |
OMIM:177170 |
| 3M Syndrome |
|
Kyphosis, Thick eyebrow, Hyperlordosis, Short neck, Scoliosis, Increased vertebral height |
ORPHA:2616 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis |
ORPHA:293978 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Scoliosis, Kyphosis |
OMIM:211530 |
| 19P13.12 Microdeletion Syndrome |
|
Kyphosis, Generalized hirsutism, Short neck, Scoliosis, Synophrys |
ORPHA:254346 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Scoliosis, Abnormality of the nail, Vertebral hypoplasia |
OMIM:308050 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse scalp hair, Sparse and thin eyebrow, Scoliosis |
OMIM:614008 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Kyphosis, Hyperlordosis, Short neck, Scoliosis |
OMIM:251450 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:79107 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:226600 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Kyphosis |
OMIM:609541 |
| Giant Cell Arteritis |
|
Ataxia, Alopecia, Paresthesia |
ORPHA:397 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hemivertebrae, Kyph... |
ORPHA:2062 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Coarse hair, Kyphosis, Short neck, Scoliosis |
OMIM:130720 |
| Dyskeratosis Congenita |
|
White hair, Nail dystrophy, Alopecia, Abnormal eyebrow morphology, Aplastic/hypoplastic toenail, ... |
ORPHA:1775 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis |
OMIM:608776 |
| Achondroplasia |
|
Spinal canal stenosis, Thoracolumbar kyphosis, Kyphosis, Cervical spinal canal stenosis, Lumbar h... |
ORPHA:15 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hirsutism, Prominent protruding coccyx, Prominent coccyx, Kyphosis, Ataxia, Sacral dimple, Short ... |
OMIM:300966 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Kyphosis |
ORPHA:93274 |
| Urban-Rogers-Meyer Syndrome |
|
Short neck, Kyphosis |
ORPHA:3409 |
| Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia |
OMIM:615577 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Scoliosis |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Scoliosis |
ORPHA:98853 |
| Biotinidase Deficiency |
|
Ataxia, Alopecia |
OMIM:253260 |
| Trisomy 13 |
|
Scoliosis, Abnormal eyelash morphology, Kyphosis |
ORPHA:3378 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Platyspondyly, Kyphosis, Hyperlordosis, Short neck, Scoliosis |
ORPHA:582 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Abnormality of the curvature of the vertebral column, Kyphoscoliosis, Platyspondyly, Thoracolumba... |
ORPHA:93360 |
| Mend Syndrome |
|
Kyphosis |
OMIM:300960 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Hyperlordosis, Low posterior hairline, Short nec... |
ORPHA:2789 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia |
ORPHA:169154 |
| Cono-Spondylar Dysplasia |
|
Short neck, Short nail, Scoliosis, Kyphosis |
ORPHA:420794 |
| Cockayne Syndrome Type 2 |
|
Ataxia, Scoliosis, Kyphosis |
ORPHA:90322 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Platyspondyly, Kyphosis |
OMIM:616482 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Abnormality of hair texture, Scoliosis, Hypopigmentation of hair, Ver... |
ORPHA:96169 |
| Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Scoliosis, Kyphosis |
OMIM:259420 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Alopecia |
ORPHA:98907 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Absen... |
ORPHA:158687 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Sparse body hair, Nail dystrophy, Absent eyelashes, Hyperconvex nail, Patchy al... |
OMIM:106260 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Scoliosis, Kyphosis |
OMIM:301041 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Nail dystrophy, Alopecia, Abnormal hair morphology |
ORPHA:90154 |
| 3C Syndrome |
|
Hemivertebrae, Kyphosis, Hypoplastic fingernail, Short neck, Scoliosis |
ORPHA:7 |
| Autosomal Dominant Hypocalcemia |
|
Abnormal fingernail morphology, Alopecia, Abnormality of the nail, Paresthesia |
ORPHA:428 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Scoliosis, Low anterior hairline, Kyphosis |
ORPHA:404440 |
| Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... |
ORPHA:2108 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Scoliosis, Kyphosis |
OMIM:254090 |
| Leprosy |
|
Impaired temperature sensation, Paresthesia, Alopecia, Absent eyebrow, Loss of eyelashes, Dissoci... |
ORPHA:548 |
| 15Q24 Microdeletion Syndrome |
|
High anterior hairline, Broad eyebrow, Scoliosis, Kyphosis |
ORPHA:94065 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Vertebral compression fracture, Hirsutism, Kyphosis |
OMIM:219090 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Scoliosis, Kyphosis |
OMIM:615381 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology |
ORPHA:90153 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Scoliosis, Kyphosis |
ORPHA:364028 |
| Hurler Syndrome |
|
Biconcave vertebral bodies, C1-C2 subluxation, Hirsutism, Kyphosis, Short neck, Hypoplasia of the... |
OMIM:607014 |
| Autosomal Dominant Robinow Syndrome |
|
Hemivertebrae, Onychogryposis of fingernail, Fingernail dysplasia, Abnormal form of the vertebral... |
ORPHA:3107 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal hair pattern, Kyphosis, Short neck, Scoliosis, Synophrys |
ORPHA:85293 |
| Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Alopecia |
OMIM:212750 |
| Postencephalitic Parkinsonism |
|
Paresthesia, Camptocormia, Kyphosis |
ORPHA:97349 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| 15Q14 Microdeletion Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:261190 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:617821 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Scoliosis, Kyphosis |
OMIM:617143 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the vertebral column, Thin fingernail, Abnormal hair morphology, Thin eyebrow, Abn... |
ORPHA:2273 |
| Knobloch Syndrome 1 |
|
Ataxia, Alopecia |
OMIM:267750 |
| Cdags Syndrome |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Kyphosis |
OMIM:603116 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Scoliosis, Kyphosis |
ORPHA:2479 |
| Pycnodysostosis |
|
Spondylolysis, Ridged nail, Kyphosis, Spondylolisthesis, Nail dysplasia, Hyperlordosis, Abnormali... |
ORPHA:763 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:261144 |
| Autosomal Recessive Robinow Syndrome |
|
Fingernail dysplasia, Alopecia, Long eyelashes, Kyphosis, Sacral dimple, Short neck, Vertebral se... |
ORPHA:1507 |
| Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Thoracic kyphosis, Short neck, Hypoplasia o... |
OMIM:223800 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Kyphosis |
OMIM:603387 |
| H Syndrome |
|
Alopecia, Hypertrichosis, Abnormal eyebrow morphology |
ORPHA:168569 |
| Linear Nevus Sebaceus Syndrome |
|
Vertebral segmentation defect, Alopecia |
ORPHA:2612 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Kyphosis |
OMIM:609008 |
| Woodhouse-Sakati Syndrome |
|
Fine hair, Sparse hair, Alopecia, Choreoathetosis |
OMIM:241080 |
| Mixed Connective Tissue Disease |
|
Alopecia |
ORPHA:809 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Patchy alopecia |
OMIM:606367 |
| Bartsocas-Papas Syndrome 1 |
|
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Alopecia totalis, Sparse scalp hair, Shor... |
OMIM:263650 |
| Biotinidase Deficiency |
|
Ataxia, Alopecia |
ORPHA:79241 |
| Emanuel Syndrome |
|
Scoliosis, Kyphosis |
OMIM:609029 |
| Focal Dermal Hypoplasia |
|
Alopecia, Scoliosis, Abnormality of the nail |
ORPHA:2092 |
| Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Kyphosis |
OMIM:258850 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hirsutism |
ORPHA:189427 |
| Micro Syndrome |
|
Scoliosis, Generalized hirsutism, Kyphosis |
ORPHA:2510 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Weaver Syndrome |
|
Fine hair, Thin nail, Kyphosis, Deep-set nails, Sparse hair, Scoliosis |
OMIM:277590 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Synophrys, Gait ataxia, Scoliosis, Kyphosis |
ORPHA:476126 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low anterior hairline, Hemivertebrae, Kyphosis, Short neck, Scoliosis |
OMIM:618223 |
| Scleroderma |
|
Alopecia |
ORPHA:801 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Scoliosis, Abnormal hair pattern, Kyphosis |
ORPHA:261250 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Kyphosis |
OMIM:166220 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Kyphosis, Spondylolisthesis, Sacral dimple, Cervical spinal canal stenosis, Hyperlordos... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Alopecia, Kyphosis, Spondylolisthesis, Sacral dimple, Cervical spinal canal stenosis, Hyperlordos... |
ORPHA:363958 |
| Marden-Walker Syndrome |
|
Short neck, Scoliosis, Kyphosis |
OMIM:248700 |
| Dysostosis, Stanescu Type |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:1798 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Hirsutism |
ORPHA:189439 |
| Fucosidosis |
|
Abnormality of the nail, Anterior beaking of lumbar vertebrae, Kyphosis |
ORPHA:349 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia |
OMIM:248370 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Alopecia universalis, Sparse hair, Premature graying of hair |
ORPHA:363618 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Synophrys, Scoliosis, Kyphosis |
OMIM:619557 |
| Mucopolysaccharidosis, Type Ii |
|
Short neck, Hypertrichosis, Kyphosis |
OMIM:309900 |
| Harrod Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2115 |
| Cohen Syndrome |
|
Low anterior hairline, Long eyelashes, Kyphosis, Thick hair, Thick eyebrow, Scoliosis, Abnormal e... |
ORPHA:193 |
| Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
| 2P15P16.1 Microdeletion Syndrome |
|
Fine hair, Long eyelashes, Kyphosis, Sparse and thin eyebrow, Scoliosis, Supernumerary nipple |
ORPHA:261349 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Kyphosis |
OMIM:616294 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal hair morphology, Low anterior hairline, Kyphosis, Hypoplastic toenails, Short neck, Vert... |
ORPHA:251014 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Cervical instability, Abnormality of the cervical spine, Thoracol... |
ORPHA:508533 |
| Mucopolysaccharidosis Type 6 |
|
Short neck, Ovoid vertebral bodies, Kyphosis |
ORPHA:583 |
| Acro-Renal-Mandibular Syndrome |
|
Butterfly vertebrae, Hemivertebrae, Kyphosis, Short neck, Scoliosis |
ORPHA:958 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Coarse hair, Alopecia, Ataxia, Sparse hair |
ORPHA:2750 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis |
ORPHA:2050 |
| Distal Monosomy 19P13.3 |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
| Rett Syndrome, Congenital Variant |
|
Athetosis, Chorea, Scoliosis, Kyphosis |
OMIM:613454 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism |
ORPHA:90795 |
| Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Ataxia, ... |
OMIM:305000 |
| Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Hyperconvex fingernails, Hypoplastic fingernail,... |
ORPHA:192 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Abnormality of hair texture, Spondylolisthesis, Sacral dimple, Scolio... |
OMIM:610443 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
| Limb-Mammary Syndrome |
|
Hypoplastic nipples, Alopecia, Sparse eyebrow, Bilateral breast hypoplasia, Nail dysplasia, Breas... |
ORPHA:69085 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Sparse eyebrow, Kyphosis, Hyperlordosis, Gait ataxia, Scoliosis |
OMIM:617011 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Back pain, Kyphosis |
OMIM:106300 |
| Rothmund-Thomson Syndrome |
|
Small nail, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nail dysplasia, Abnormality of th... |
ORPHA:2909 |
| Holt-Oram Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:392 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Sparse hair, Thin eyebrow, Abnormal form of the vertebra... |
ORPHA:2636 |
| Schwartz-Jampel Syndrome |
|
Long eyelashes in irregular rows, Low anterior hairline, Abnormally straight spine, Platyspondyly... |
ORPHA:800 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia |
OMIM:311200 |
| Prader-Willi Syndrome |
|
Impaired pain sensation, Kyphosis, Scoliosis, Hypopigmentation of hair, Frontal upsweep of hair |
OMIM:176270 |
| Genitopalatocardiac Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2075 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Sparse and thin eyebrow, Trichiasis, Kyphosis |
OMIM:609944 |
| Mgat2-Cdg |
|
Hirsutism, Hypoplastic nipples, Long eyelashes, Kyphosis, Scoliosis |
ORPHA:79329 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Alopecia, Onychogryposis |
ORPHA:79396 |
| Alexander Disease |
|
Chorea, Kyphosis, Ataxia, Hyperlordosis, Short neck, Scoliosis |
ORPHA:58 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Kyphosis, Hyperconvex fingernails, Hypoplasti... |
ORPHA:2215 |
| Systemic Sclerosis |
|
Nail bed telangiectasia, Alopecia |
ORPHA:90291 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Impaired pain sensation, Long eyelashes, Kyphosis, Scoliosis |
OMIM:619005 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Campomelic Dysplasia |
|
Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis |
ORPHA:140 |
| Atypical Werner Syndrome |
|
Abnormal hair morphology, Intervertebral disc degeneration, Alopecia, Abnormal hair quantity, Whi... |
ORPHA:79474 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Thick eyebrow, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:162300 |
| Hajdu-Cheney Syndrome |
|
Biconcave vertebral bodies, Low anterior hairline, Coarse hair, Hypoplastic 5th lumbar vertebrae,... |
ORPHA:955 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Nail dystrophy, Alopecia |
ORPHA:37042 |
| Spondyloenchondrodysplasia |
|
Chorea, Platyspondyly, Kyphosis |
ORPHA:1855 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Impaired temperature sensation, Scoliosis, Kyphosis |
ORPHA:398069 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism |
ORPHA:2298 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Microphthalmia, Lenz Type |
|
Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:568 |
| Wolf-Hirschhorn Syndrome |
|
Abnormality of the vertebral column, Highly arched eyebrow, Abnormal vertebral morphology, Abnorm... |
ORPHA:280 |
| Ramon Syndrome |
|
Hypertrichosis, Scoliosis, Kyphosis |
OMIM:266270 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Scoliosis, Kyphosis |
OMIM:618493 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Scoliosis, Sparse eyebrow, Kyphosis |
ORPHA:464738 |
| Cowden Syndrome 5 |
|
Scoliosis, Kyphosis |
OMIM:615108 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
| Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
| Xeroderma Pigmentosum |
|
Ataxia, Alopecia |
ORPHA:910 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Kyphosis |
OMIM:212065 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221008 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
|
