Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Dermoodontodysplasia |
|
Dry skin, Thin skin |
OMIM:125640 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Hypopigmented macule, Dry skin, Hypermelanotic macule |
OMIM:617920 |
Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Ulerythema Ophryogenesis |
|
Dry skin, Facial erythema, Hyperkeratotic papule, Dermal atrophy, Erythematous papule |
ORPHA:3406 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity |
ORPHA:384 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae |
OMIM:225310 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Purpura |
ORPHA:745 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Acrogeria |
|
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Dermoodontodysplasia |
|
Dry skin, Thin skin, Melanocytic nevus |
ORPHA:1660 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Premature Ovarian Failure 2A |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Thin skin |
ORPHA:1658 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Acquired Ichthyosis |
|
Papule, Erythema, Dry skin |
ORPHA:454 |
Spinocerebellar Ataxia Type 34 |
|
Macule, Dry skin, Papule |
ORPHA:1955 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Pseudoprogeria Syndrome |
|
Failure to thrive, Thin skin, Decreased body weight |
ORPHA:2985 |
Erythrokeratodermia Variabilis |
|
Macule, Hypermelanotic macule, Erythema, Weight loss, Dry skin |
ORPHA:317 |
Spermatogenic Failure 75 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:619949 |
Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:618723 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Erythematous plaque, Thin skin, Dermal atrophy, Milia |
ORPHA:158673 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... |
OMIM:618086 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin |
ORPHA:530838 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin, Aplasia cutis congenita of scalp |
OMIM:600906 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level |
OMIM:233300 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Thin skin |
OMIM:617364 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Classic Mycosis Fungoides |
|
Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Dry skin |
ORPHA:2584 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Failure to thrive, Thin skin |
ORPHA:261304 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Dry skin |
ORPHA:1954 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Dry skin, Facial erythema |
OMIM:212360 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Thin skin |
ORPHA:157965 |
Familial Cervical Artery Dissection |
|
Thin skin, Striae distensae |
ORPHA:36382 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Xeroderma Pigmentosum Variant |
|
Dry skin, Dermal atrophy |
ORPHA:90342 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:75497 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Erythema, Periauricular skin pits, Atrophic scars, Skin pit, Hyp... |
ORPHA:79100 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Thin skin |
ORPHA:455 |
Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399805 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Fetal Encasement Syndrome |
|
Thin skin |
OMIM:613630 |
Familial Melanoma |
|
Dry skin, Nevus |
ORPHA:618 |
Leopard Syndrome 2 |
|
Cafe-au-lait spot, Dry skin, Multiple lentigines, Webbed neck |
OMIM:611554 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Dry skin, Increased body weight |
OMIM:614450 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Dry skin, Thin skin, Aplasia cutis congenita, Failure to thrive |
ORPHA:217346 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Thin skin, Cutis laxa |
ORPHA:75496 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617690 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Dry skin, Obesity |
ORPHA:3085 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Thin skin, Dry skin, Papule |
ORPHA:742 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:2028 |
Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Facial erythema, Abdominal obesity, Thin skin, Ecchymosis, Striae distensae, Purpura |
OMIM:219090 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Atypical scarring o... |
ORPHA:1366 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Premature Ovarian Failure 15 |
|
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... |
OMIM:618096 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Thin skin |
ORPHA:1810 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:616185 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
Noonan Syndrome 5 |
|
Large for gestational age, Dry skin, Webbed neck, Multiple lentigines, Nevus, Cafe-au-lait spot |
OMIM:611553 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Numerous nevi, Multiple lentigines, Webbed neck, Dry skin |
OMIM:613707 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Failure to thrive, Thin skin, Cutis laxa |
OMIM:219150 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin |
ORPHA:2101 |
Recessive X-Linked Ichthyosis |
|
Dry skin |
ORPHA:461 |
Sjögren-Larsson Syndrome |
|
Erythema, Dry skin |
ORPHA:816 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Cigarette-paper scars, Thin skin, Webbed neck |
OMIM:612350 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:219080 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1899 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:610475 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin, Shagreen patch |
ORPHA:2617 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... |
OMIM:618187 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Obesity |
ORPHA:1035 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Ddost-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:300536 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer |
ORPHA:1114 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Small for gestational age |
OMIM:616943 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:614324 |
Periventricular Nodular Heterotopia |
|
Thin skin |
ORPHA:98892 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... |
OMIM:620103 |
Phenylketonuria |
|
Dry skin |
OMIM:261600 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Atelis Syndrome 1 |
|
Cafe-au-lait spot, Dry skin |
OMIM:620184 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Dry skin, Spotty hypopigmentation |
OMIM:300860 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin |
ORPHA:486815 |
Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Failure to thrive, Milia, Congenital localized absence of skin |
OMIM:226700 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Dry skin, Cutis laxa |
OMIM:612379 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Thin skin |
OMIM:166210 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Hypomelanotic macule, Scaling skin, Hypermelanotic macule |
OMIM:618373 |
Premature Ovarian Failure 18 |
|
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... |
OMIM:619203 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:2348 |
Recon Progeroid Syndrome |
|
Dry skin, Scaling skin, Thin skin |
OMIM:620370 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:610489 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Adiposis Dolorosa |
|
Subcutaneous nodule, Dry skin, Obesity |
ORPHA:36397 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
Short Syndrome |
|
Premature skin wrinkling, Small for gestational age, Thin skin |
OMIM:269880 |
Focal Facial Dermal Dysplasia Type I |
|
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita |
ORPHA:79133 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Thin skin, Cutis laxa, Dermal translucency |
OMIM:614438 |
Marshall-Smith Syndrome |
|
Failure to thrive, Thin skin |
ORPHA:561 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Dry skin, Thin skin |
ORPHA:238468 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Scarring alopecia of scalp, Dry skin, Facial erythema |
OMIM:308800 |
Pparg-Related Familial Partial Lipodystrophy |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:79083 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin |
OMIM:617066 |
Pili Torti-Onychodysplasia Syndrome |
|
Keloids, Dry skin |
ORPHA:2890 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita |
OMIM:612138 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... |
OMIM:273250 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin |
OMIM:132000 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Xeroderma Pigmentosum |
|
Macule, Failure to thrive, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocyt... |
ORPHA:910 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita |
ORPHA:79402 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Small for gestational age |
OMIM:262190 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Dry skin, Scaling skin |
OMIM:609180 |
Distal Duplication 6P |
|
Sacral dimple, Dry skin |
ORPHA:1745 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Dry skin, Thin skin |
ORPHA:1812 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399808 |
Adult Syndrome |
|
Dermal atrophy, Dry skin, Thin skin |
OMIM:103285 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Obesity |
OMIM:620191 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin |
OMIM:618116 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Palmoplantar cutis laxa, Atrophic scars, Thin skin |
OMIM:130080 |
Schopf-Schulz-Passarge Syndrome |
|
Dry skin |
OMIM:224750 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:37 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Dermal atrophy |
OMIM:617294 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Hatipoglu Immunodeficiency Syndrome |
|
Failure to thrive, Dry skin, Petechiae, Hyperpigmented/hypopigmented macules |
OMIM:620331 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Geroderma Osteodysplastica |
|
Redundant skin, Thin skin |
ORPHA:2078 |
Radio-Tartaglia Syndrome |
|
Dry skin, Obesity, Striae distensae |
OMIM:619312 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin, Large for gestational age |
ORPHA:226313 |
Noonan Syndrome 13 |
|
Cafe-au-lait spot, Dry skin, Multiple lentigines, Webbed neck |
OMIM:619087 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:612310 |
Squalene Synthase Deficiency |
|
Dry skin, Failure to thrive in infancy |
OMIM:618156 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin |
ORPHA:177 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Dry skin, Perianal erythema, Perioral erythema |
OMIM:201100 |
De Barsy Syndrome |
|
Cutis laxa, Excessive wrinkled skin, Thin skin, Failure to thrive, Dermal translucency |
ORPHA:2962 |
Focal Dermal Hypoplasia |
|
Macule, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Erythema, Thin skin, De... |
ORPHA:2092 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dermal atrophy, Lack of skin elasticity, Thin skin |
ORPHA:90153 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Dry skin, Aplasia cutis congenita of scalp |
OMIM:613026 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:614129 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Dry skin, Dermal atrophy, Cachexia |
OMIM:610965 |
Premature Aging Syndrome, Penttinen Type |
|
Skin nodule, Thin skin, Dermal atrophy, Keloids, Failure to thrive |
OMIM:601812 |
Complex Regional Pain Syndrome |
|
Erythema, Dry skin |
ORPHA:83452 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Failure to thrive, Thin skin, Webbed neck, Cafe-au-lait spot, Dermal translucency |
OMIM:617506 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612964 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin |
OMIM:618535 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Dry skin |
OMIM:614576 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Failure to thrive, Thin skin |
OMIM:617602 |
Lamellar Ichthyosis |
|
Dry skin, Lack of skin elasticity |
ORPHA:313 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Thin skin |
ORPHA:1901 |
Bachmann-Bupp Syndrome |
|
Dry skin, Large for gestational age |
OMIM:619075 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Dermal atrophy, Cachexia |
ORPHA:220295 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Thin skin |
OMIM:607823 |
Omenn Syndrome |
|
Failure to thrive, Dry skin |
ORPHA:39041 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Rapp-Hodgkin Syndrome |
|
Dry skin, Thin skin |
OMIM:129400 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Erythema, Weight loss |
ORPHA:33577 |
Alg11-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:280071 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Scaling skin |
OMIM:612281 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Thin skin |
OMIM:150400 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Dry skin |
OMIM:617388 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cafe-au-lait spot, Thin skin |
OMIM:617804 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:230851 |
Lichen Planopilaris |
|
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer |
ORPHA:525 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Redundan... |
ORPHA:1807 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin |
OMIM:104570 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Hypopigmented skin patches, Skin ulcer, Thin skin, Papule |
ORPHA:2907 |
Tangier Disease |
|
Dry skin |
OMIM:205400 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin |
ORPHA:1028 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin |
OMIM:268020 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Thin skin |
OMIM:615895 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Dry skin |
OMIM:618282 |
Mandibuloacral Dysplasia |
|
Thin skin |
ORPHA:2457 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Dry skin, Periorbital wrinkles, Hypoplastic-absent sebaceous glands, Thin skin |
OMIM:305100 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:280365 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Excessive wrinkled skin, Multiple lentigines, Webbe... |
ORPHA:1340 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Thin skin |
OMIM:112250 |
Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Failure to thrive, Thin skin |
OMIM:244450 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Arterial Tortuosity Syndrome |
|
Thin skin, Cutis laxa |
OMIM:208050 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dermal atrophy, Thin skin |
ORPHA:90154 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dry skin |
OMIM:610768 |
Hydroxykynureninuria |
|
Dry skin |
ORPHA:79155 |
Stuve-Wiedemann Syndrome 1 |
|
Premature skin wrinkling, Milia, Thin skin |
OMIM:601559 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Multiple cafe-au-lait spots, Truncal obesity, Dry skin, Hypopigmented skin patches |
ORPHA:2637 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Cachexia, Weight loss |
ORPHA:1979 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thin skin, Dermal translucency |
OMIM:612199 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
Uremic Pruritus |
|
Dry skin, Papule |
ORPHA:94059 |
Sézary Syndrome |
|
Dry skin |
ORPHA:3162 |
Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity |
ORPHA:2833 |
Adams-Oliver Syndrome 4 |
|
Aplasia cutis congenita |
OMIM:615297 |
Glass Syndrome |
|
Thin skin |
OMIM:612313 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp |
OMIM:619817 |
Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300068 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Dry skin, Redundant skin, Thin skin |
ORPHA:920 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin, Milia |
ORPHA:69087 |
Agel Amyloidosis |
|
Dry skin, Diffuse skin atrophy, Cutis laxa |
ORPHA:85448 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Dry skin, Obesity, Decreased body weight |
OMIM:619229 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin, Obesity |
ORPHA:3157 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin, Dermal translucency |
ORPHA:536467 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Dry skin, Failure to thrive in infancy |
ORPHA:261323 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Sacral dimple, Dry skin, Small for gestational age |
OMIM:610443 |
9P13 Microdeletion Syndrome |
|
Cafe-au-lait spot, Dry skin |
ORPHA:324313 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Noonan Syndrome 14 |
|
Dry skin, Webbed neck |
OMIM:619745 |
Cushing Disease |
|
Increased body weight, Skin ulcer, Truncal obesity, Abdominal obesity, Thin skin, Ecchymosis, Str... |
ORPHA:96253 |
46,Xy Sex Reversal 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612965 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Thin skin |
ORPHA:3342 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Dry skin, Weight loss |
OMIM:619487 |
Juvenile Dermatomyositis |
|
Erythema, Dry skin, Skin ulcer, Weight loss |
ORPHA:93672 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Failure to thrive, Aplasia/Hypoplasia of the skin |
ORPHA:100 |
Refsum Disease |
|
Dry skin |
ORPHA:773 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Failure to thrive, Thin skin, Cutis laxa |
OMIM:151050 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Numerous nevi, Thin skin, Cutis laxa |
ORPHA:536471 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
Netherton Syndrome |
|
Dry skin |
ORPHA:634 |
Flynn-Aird Syndrome |
|
Cachexia, Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Scaling skin |
OMIM:616295 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin |
OMIM:618527 |
Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Small for gestational age |
OMIM:601675 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Meier-Gorlin Syndrome 1 |
|
Failure to thrive, Small for gestational age, Thin skin |
OMIM:224690 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163971 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Aplasia cutis congenita, Atrophic scars, Skin erosion, Milia |
ORPHA:79411 |
Localized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... |
ORPHA:251393 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration |
OMIM:223360 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Skin fissure, Dry skin, Scaling skin, Facial erythema |
ORPHA:1010 |
Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin |
OMIM:619244 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Failure to thrive, Thin skin, Cutis laxa |
OMIM:266920 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Thin skin |
ORPHA:2719 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:199299 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Hallermann-Streiff Syndrome |
|
Dry skin, Small for gestational age, Dermal atrophy |
OMIM:234100 |
Dermatomyositis |
|
Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Weight loss, Dry skin, Papule |
ORPHA:221 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Facial wrinkling, Dry skin, Thin skin, Failure to thrive |
OMIM:606721 |
Koolen-De Vries Syndrome |
|
Dry skin |
ORPHA:96169 |
Barber-Say Syndrome |
|
Redundant skin, Dermal atrophy, Premature skin wrinkling, Dry skin, Dermal translucency |
OMIM:209885 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
Fucosidosis |
|
Failure to thrive, Dry skin, Petechiae |
OMIM:230000 |
Helsmoortel-Van Der Aa Syndrome |
|
Truncal obesity, Failure to thrive, Thin skin, Obesity |
OMIM:615873 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Thin skin |
OMIM:200110 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level |
OMIM:233400 |
Arthrogryposis And Ectodermal Dysplasia |
|
Atypical scarring of skin, Dry skin |
OMIM:601701 |
Cockayne Syndrome B |
|
Small for gestational age, Dry skin, Atypical scarring of skin, Dermal atrophy, Severe failure to... |
OMIM:133540 |
Atypical Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Skin ulcer, Thin skin, Decreased body we... |
ORPHA:79474 |
Restrictive Dermopathy 1 |
|
Stillbirth, Scaling skin, Thin skin, Neonatal death, Skin erosion |
OMIM:275210 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Dry skin |
OMIM:607626 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Dry skin, Periorbital wrinkles |
OMIM:614941 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Small for gestational age, Scaling skin |
OMIM:618419 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Dry skin |
ORPHA:90674 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Chand Syndrome |
|
Skin erosion, Commissural lip pit, Dry skin |
ORPHA:1401 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Aplasia cutis congenita, Asymmetric, linear skin defects |
OMIM:300887 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:261534 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dry skin, Small for gestational age |
OMIM:617799 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Subcutaneous nodule, Dry skin |
ORPHA:508542 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Dry skin |
OMIM:614008 |
Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Erythema, Dry skin |
OMIM:257980 |
Wiedemann-Rautenstrauch Syndrome |
|
Small for gestational age, Dry skin, Thin skin, Premature skin wrinkling, Failure to thrive |
OMIM:264090 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:95409 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Dry skin |
OMIM:613990 |
Adams-Oliver Syndrome 3 |
|
Aplasia cutis congenita |
OMIM:614814 |
Rabson-Mendenhall Syndrome |
|
Dry skin, Lichenoid skin lesion |
ORPHA:769 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Dry skin, Nevus |
ORPHA:1896 |
Isolated Splenogonadal Fusion |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
Cranioectodermal Dysplasia 3 |
|
Dry skin, Cutis laxa |
OMIM:614099 |
Syndromic Diarrhea |
|
Cafe-au-lait spot, Dry skin, Small for gestational age |
ORPHA:84064 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Thin skin |
ORPHA:536545 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... |
ORPHA:168563 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Thin skin, Striae distensae |
ORPHA:60030 |
Dubowitz Syndrome |
|
Sacral dimple, Dry skin |
ORPHA:235 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Skin ulcer, Weight loss, Truncal obesity, Abdominal obesity, Thin skin, Ec... |
ORPHA:99889 |
46,Xy Sex Reversal 1 |
|
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... |
OMIM:400044 |
Trichothiodystrophy |
|
Dry skin |
ORPHA:33364 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Dry skin, Skin ulcer |
ORPHA:955 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Subcutaneous nodule, Dry skin, Scaling skin, Skin ulcer |
ORPHA:2526 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Dry skin, Large for gestational age, Webbed neck |
OMIM:280000 |
Helix Syndrome |
|
Dry skin |
OMIM:617671 |
Subacute Cutaneous Lupus Erythematosus |
|
Annular cutaneous lesion, Psoriasiform lesion, Dermal atrophy |
ORPHA:163525 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
Warburg-Cinotti Syndrome |
|
Erythema, Thin skin |
OMIM:618175 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Dry skin |
OMIM:612132 |
X-Linked Intellectual Disability, Nascimento Type |
|
Preauricular pit, Dry skin |
ORPHA:163956 |
Cockayne Syndrome A |
|
Atypical scarring of skin, Failure to thrive, Dry skin |
OMIM:216400 |
Barber-Say Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the skin, Redundant skin |
ORPHA:1231 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Skin erosion, Aplasia cutis congenita |
OMIM:609638 |
Limb-Mammary Syndrome |
|
Multiple cafe-au-lait spots, Dry skin, Psoriasiform dermatitis |
ORPHA:69085 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:99330 |
Orofaciodigital Syndrome Type 1 |
|
Dry skin, Milia, Lip pit |
ORPHA:2750 |
Frasier Syndrome |
|
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... |
ORPHA:347 |
Bartsocas-Papas Syndrome 1 |
|
Skin tags, Dry skin |
OMIM:263650 |
Wiedemann-Rautenstrauch Syndrome |
|
Thin skin, Premature skin wrinkling, Failure to thrive, Slender build, Dermal translucency |
ORPHA:3455 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Preauricular skin tag, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1647 |
Addison Disease |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:85138 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... |
ORPHA:755 |
Scalp-Ear-Nipple Syndrome |
|
Aplasia cutis congenita, Dry skin |
OMIM:181270 |
Menkes Disease |
|
Atypical scarring of skin, Dry skin |
ORPHA:565 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
Hoyeraal-Hreidarsson Syndrome |
|
Excessive wrinkled skin, Failure to thrive, Dermal atrophy |
ORPHA:3322 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... |
ORPHA:672 |
Acrofacial Dysostosis, Palagonia Type |
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Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1787 |
Complete Androgen Insensitivity Syndrome |
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Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, In... |
ORPHA:99429 |
Werner Syndrome |
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Aplasia/Hypoplasia of the skin, Slender build, Lack of skin elasticity, Skin ulcer |
ORPHA:902 |
Immunodeficiency 55 |
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Dry skin |
OMIM:617827 |
Autosomal Dominant Hypocalcemia |
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Dry skin |
ORPHA:428 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Dermal atrophy, Lack of skin elasticity |
OMIM:615381 |
Perrault Syndrome 4 |
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Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol |
OMIM:615300 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Thin skin |
OMIM:129900 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... |
ORPHA:158684 |
Ppoma |
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Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
46,Xx Gonadal Dysgenesis |
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Increased circulating gonadotropin level, Streak ovary, Decreased serum estradiol, Delayed puberty |
ORPHA:243 |
Primary Sjögren Syndrome |
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Dry skin, Lichenoid skin lesion, Skin ulcer, Purpura |
ORPHA:289390 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Curry-Jones Syndrome |
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Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1553 |
Noonan Syndrome 1 |
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Cafe-au-lait spot, Dry skin, Failure to thrive in infancy, Webbed neck |
OMIM:163950 |
Adams-Oliver Syndrome |
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Aplasia cutis congenita, Failure to thrive, Aplasia/Hypoplasia of the skin |
ORPHA:974 |
Acute Radiation Syndrome |
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Dermal atrophy, Scaling skin, Skin ulcer |
ORPHA:454831 |
Vascular Ehlers-Danlos Syndrome |
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Macule, Redundant skin, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Excessive ... |
ORPHA:286 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Few cafe-au-lait spots, Sacral dimple, Failure to thrive, Erythema, Cutis laxa, Facial erythema, ... |
OMIM:619503 |
Blau Syndrome |
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Papule, Erythema, Dry skin, Skin ulcer |
ORPHA:90340 |
Grfoma |
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Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Failure to thrive, Skin erosion, Atypical scarring of skin, Nevus, Aplasia cutis congenita, Decre... |
ORPHA:89842 |
46,Xx Sex Reversal 1 |
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Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:400045 |
Kanzaki Disease |
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Dry skin, Petechiae |
OMIM:609242 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Failure to thrive, Dry skin, Stillbirth |
OMIM:210710 |
Hypermobile Ehlers-Danlos Syndrome |
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Atypical scarring of skin, Subcutaneous nodule, Thin skin |
ORPHA:285 |
Tangier Disease |
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Dry skin |
ORPHA:31150 |
Somatostatinoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Lyme Disease |
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Skin nodule, Dermal atrophy |
ORPHA:91546 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Aplasia cutis congenita on trunk or limbs, Erythema, Atrophic scars, Aplasia cutis congenita, Fai... |
ORPHA:79396 |
Desmosterolosis |
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Failure to thrive, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:35107 |
Vipoma |
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Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Failure to thrive, Aplasia/Hypoplasia of the skin, Nevus, Webbed neck |
ORPHA:2990 |
Ovarian Hyperstimulation Syndrome |
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Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Aicardi-Goutières Syndrome |
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Dry skin |
ORPHA:51 |
Xeroderma Pigmentosum, Complementation Group A |
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Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Cutis Marmorata Telangiectatica Congenita |
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Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Purpura |
ORPHA:1556 |
47,Xyy Syndrome |
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Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... |
ORPHA:8 |
Trichorhinophalangeal Syndrome, Type Ii |
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Redundant skin in infancy, Dry skin, Nevus, Cutis laxa |
OMIM:150230 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Dry skin |
OMIM:218700 |
Plague |
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Localized skin lesion, Dry skin, Skin ulcer |
ORPHA:707 |
Dysosteosclerosis |
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Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
Dyskeratosis Congenita |
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Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... |
ORPHA:1775 |
Testicular Agenesis |
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Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... |
ORPHA:325124 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
Glucagonoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
46,Xy Partial Gonadal Dysgenesis |
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Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate... |
ORPHA:251510 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Neonatal death, Dry skin, Perianal erythema, Scaling skin |
OMIM:308205 |
Malignant Atrophic Papulosis |
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Dermal atrophy, Papule, Weight loss |
ORPHA:679 |
Exercise-Induced Malignant Hyperthermia |
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Dry skin |
ORPHA:466650 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Hyperpigmented papule, Failure to thrive, Dry skin, Skin plaque |
ORPHA:99646 |
African Trypanosomiasis |
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Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... |
ORPHA:3385 |
Toriello-Lacassie-Droste Syndrome |
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Failure to thrive, Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Atypical scarring of skin, Dry skin |
ORPHA:642 |
Alzahrani-Kuwahara Syndrome |
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Dry skin |
OMIM:619268 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Asymmetric, linear skin defects, Failure to thrive |
OMIM:300952 |
Adams-Oliver Syndrome 5 |
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Cutis marmorata telangiectatica congenita, Aplasia cutis congenita |
OMIM:616028 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
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Hypoplastic pilosebaceous units |
OMIM:601345 |
Microphthalmia With Linear Skin Defects Syndrome |
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Sacral dimple, Aplasia/Hypoplasia of the skin, Erythema, Hypopigmented skin patches, Dermal atrop... |
ORPHA:2556 |
Xeroderma Pigmentosum, Complementation Group E |
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Dermal atrophy |
OMIM:278740 |
Kindler Epidermolysis Bullosa |
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Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Erythema, Milia |
ORPHA:2908 |
Rothmund-Thomson Syndrome |
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Aplasia/Hypoplasia of the skin, Small for gestational age |
ORPHA:2909 |
Xeroderma Pigmentosum, Variant Type |
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Dermal atrophy |
OMIM:278750 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Increased circulating gonadotropin level |
OMIM:110100 |
Xeroderma Pigmentosum, Complementation Group C |
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Dermal atrophy |
OMIM:278720 |
Lenz-Majewski Hyperostotic Dwarfism |
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Aplasia/Hypoplasia of the skin, Redundant skin |
ORPHA:2658 |
Kindler Syndrome |
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Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ... |
ORPHA:1772 |
Restrictive Dermopathy |
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Dermal atrophy, Scaling skin, Webbed neck, Skin erosion, Dermal translucency |
ORPHA:1662 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |