Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Lymphad... |
ORPHA:100025 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... |
ORPHA:2985 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Dehydration, Weight loss, Skin ulcer, Leukopenia, Fail... |
ORPHA:33355 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... |
ORPHA:401911 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Thin skin, Trichodyspla... |
ORPHA:1660 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/... |
ORPHA:261304 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Growth delay, Sparse hair |
OMIM:246500 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair |
ORPHA:1810 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Esophageal stricture, Erythematous plaque, Thin skin,... |
ORPHA:158673 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Dehydration, Portal hypertension, Malabsorption |
ORPHA:83620 |
Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Dehydration, Macroglossia, Intrauterine growth retardation, Failure to... |
ORPHA:99886 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia |
ORPHA:1203 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Malabsorp... |
ORPHA:2930 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Cryptorchidism, Dehydration, Dysphagia, Intrauterine growth retardation, Failure to... |
OMIM:618958 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... |
OMIM:617294 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Short stature, Skin ulcer, Fine hair, Thin skin |
ORPHA:2500 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Woolly hair, Chronic hepa... |
OMIM:614602 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Pancre... |
ORPHA:79312 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration, Long eyelashes, Failure to thrive, Papule |
OMIM:616069 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Failure to thrive, Dehydration |
ORPHA:28 |
X-Linked Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Thin skin, Short stature |
ORPHA:75497 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... |
OMIM:275400 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... |
ORPHA:217346 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp... |
ORPHA:79133 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Polycystic ova... |
ORPHA:2348 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis |
ORPHA:2300 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, Sparse body hair, Aplas... |
ORPHA:79402 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... |
ORPHA:79499 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Psoriasiform ... |
OMIM:243150 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Thin skin, Hypohidrosis |
ORPHA:1658 |
Chylous Ascites |
|
Lymphedema, Subcutaneous nodule, Abnormal intestine morphology, Ascites, Pancreatitis |
ORPHA:1160 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Atrophic ... |
ORPHA:89838 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Growth delay,... |
ORPHA:75496 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Rapp-Hodgkin Syndrome |
|
Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Velopha... |
OMIM:129400 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Polycystic ova... |
ORPHA:79083 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Disproportionate short-limb short stature, Thin skin |
OMIM:259410 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Thin skin, Hyperhidrosis |
OMIM:618905 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:3363 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hematochez... |
OMIM:615895 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails |
OMIM:617364 |
Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Short stature, Cryptorchidism, Truncal obesity, Intrauterine growth re... |
ORPHA:261483 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Low a... |
ORPHA:742 |
Netherton Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair ... |
ORPHA:634 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Sparse hair, Short stature, Intestinal malrotation |
ORPHA:2301 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Skin ulcer, Abno... |
ORPHA:525 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Malabsorption |
OMIM:606824 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasia of the ey... |
ORPHA:238468 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Short stature, Sparse body hair, Obesity |
ORPHA:85274 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Moderately short stature, Failure to thrive, Thin skin |
ORPHA:157965 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-... |
OMIM:618625 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercort... |
OMIM:610475 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Polyhydramnios, Congenital pyloric atresia |
OMIM:612138 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysp... |
OMIM:226700 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow |
OMIM:606242 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux, Thin skin |
ORPHA:98892 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Nail pits, Fine hair, ... |
ORPHA:978 |
Cystinosis |
|
Short stature, Portal hypertension, Malabsorption, Dehydration, Delayed puberty, Failure to thriv... |
ORPHA:213 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... |
ORPHA:309108 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short stature, Moderately short stature, Cigarette-paper scars, High palate, Thin skin, Webbed ne... |
OMIM:612350 |
Autosomal Agammaglobulinemia |
|
Malabsorption, Hepatitis, Dehydration, High palate, Neutropenia, Failure to thrive |
ORPHA:33110 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Small for gestational a... |
OMIM:557000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Dehydration, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Short stature, Jaundice, Neutropenia, Dehydration, Central hypothyroidism, Growth d... |
ORPHA:1667 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Thrombocytopenia, Fine hair, Premature graying of ha... |
OMIM:612199 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, ... |
OMIM:256500 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Thrombocytopenia, Dehydration, Neutropenia, Failure to... |
OMIM:606054 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morphology, Sparse ... |
ORPHA:1818 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cryptorchidism, Thin skin, Sparse hair, Intrauterine growth retardation, Failure t... |
OMIM:219150 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Edema, Decreased circulating T4 concentration, Cryptorchidism, T... |
OMIM:608104 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Juvenile Hyaline Fibromatosis |
|
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Abnormal hair morpholo... |
ORPHA:2028 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, On... |
ORPHA:2251 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt... |
ORPHA:1807 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Malabsorption, Leukocytosis, Stea... |
ORPHA:2070 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... |
ORPHA:699 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Polyhydramnios, Supernumerary nipple, Cryptorchidism, Cleft palate, Fine hair, Aplastic/hypoplast... |
ORPHA:1812 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Protein-... |
ORPHA:79319 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia |
OMIM:227260 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Intestinal atresia, Anemia, Duodenal atresia |
ORPHA:3405 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Short stature, Polycystic ovaries, Ectopic anus |
ORPHA:1643 |
Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Abnormal tongue morphology, High palate, Thin skin, Spars... |
ORPHA:2457 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... |
ORPHA:1201 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Intestinal malrotation, Cryptorchidism, High palate... |
OMIM:617602 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Truncal obesity, Increased circulating cortisol level, Macronodular adrenal ... |
OMIM:219080 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Dehydration, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytop... |
OMIM:251000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Edema, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, St... |
OMIM:602579 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dermal atrophy, Hyp... |
OMIM:103285 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Pol... |
ORPHA:436252 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Dehydration, Elevated serum 11-deoxycortisol, Failure to thrive, De... |
ORPHA:556030 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Gastroesophageal reflux, Dehydration |
OMIM:251120 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Cryptorchidism, Primary adrenal insufficiency, Dehydration,... |
OMIM:300200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the ... |
OMIM:208540 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Failure to thrive, Decreased circulating aldosterone level, Dehydration |
OMIM:203400 |
Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Naevus flammeus of the eyelid, Abnormal pancre... |
ORPHA:2849 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
Feingold Syndrome |
|
Short stature, Abnormality of the spleen, Esophageal atresia, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Growth delay, Failure to thrive, Decreased circulating aldosterone level, Dehydration |
OMIM:610600 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Edema, Pituitary adenoma, Obesity, Abdominal obesity, Thin skin, Hirsutism |
OMIM:219090 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Dehydration, Failure to thrive, Hirsutism |
OMIM:214150 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Dehydration, Hepatosplen... |
OMIM:219700 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight |
OMIM:618724 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Pyloric stenosis, Fine hair, Thin skin, Sparse hair, Intrauterine growth retardation |
OMIM:614438 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... |
ORPHA:113 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Bazex-Dupre-Christol Syndrome |
|
Pili torti, Furrowed tongue, Hypohidrosis, Coarse hair, Nevus, Sparse hair, Trichoepithelioma, Mi... |
OMIM:301845 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair |
ORPHA:2118 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Failure to thrive, Short stature, Slow-growing hair, Polyhydramnios... |
OMIM:617506 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Noonan Syndrome 6 |
|
Curly hair, Juvenile myelomonocytic leukemia, Short stature, Edema, Polyhydramnios, Long eyebrows... |
OMIM:613224 |
Familial Cervical Artery Dissection |
|
Thin skin, Striae distensae |
ORPHA:36382 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... |
OMIM:211600 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Severe short stature, Thin skin |
ORPHA:1899 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... |
OMIM:175500 |
Vipoma |
|
Dehydration, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, Hematoche... |
ORPHA:97282 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, High palate, Sparse hair, Aplasia cutis c... |
OMIM:616854 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Dehydration, Failure to thrive, Decreased carniti... |
OMIM:212140 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, High palate, Dermal atrop... |
ORPHA:90153 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Pe... |
ORPHA:98813 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/... |
OMIM:305100 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Polycystic ova... |
ORPHA:280365 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Failure to thrive, Dehydration |
OMIM:602722 |
Marshall-Smith Syndrome |
|
Failure to thrive, Thin skin, Generalized hirsutism, Protruding tongue |
ORPHA:561 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophage... |
OMIM:619227 |
Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Small for gestational age, Disproportionate short-limb short stature, ... |
OMIM:166210 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, High palate, Thin skin, Short stature |
OMIM:201170 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Growth delay, Polysplenia, Intrauterine gr... |
OMIM:617784 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Short stature, Failure to ... |
ORPHA:100 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steato... |
ORPHA:275761 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Dehydration |
ORPHA:2290 |
Fetal Encasement Syndrome |
|
Thin skin |
OMIM:613630 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Lamellar Ichthyosis |
|
Short stature, Dehydration, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
Filippi Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Decreased body weight, Sparse hair, Intrauterine gr... |
OMIM:272440 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of ha... |
ORPHA:1775 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Abnormal toenail morphology,... |
ORPHA:89843 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Short stature, Absent facial hair, High, narrow palate, Obesity, Low posterio... |
ORPHA:2183 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Small for gestational age, Hepatic melanin-like lysosomal pigmentation, Jau... |
OMIM:208085 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Dehydration |
OMIM:264350 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A... |
ORPHA:251393 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal prolapse, Colonic ... |
ORPHA:90038 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Preauricular pit, Sacral dimple, Cryptorchidism, High, narrow palate, Sparse hair |
OMIM:273390 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... |
ORPHA:2890 |
Pancreatic Agenesis 2 |
|
Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancr... |
OMIM:615935 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Thin skin |
ORPHA:230839 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Increased T cell ... |
ORPHA:263665 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Edema, Perica... |
ORPHA:90362 |
Isovaleric Acidemia |
|
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Portal ... |
ORPHA:974 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Elevated stool chloride content, Dehydration, Growth delay, Hyperaldosteronism, F... |
OMIM:214700 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Oligohydramnios, Intrauterine growth retard... |
OMIM:260370 |
Recon Progeroid Syndrome |
|
Short stature, Thrombocytopenia, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, A... |
OMIM:620370 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Failure to thrive, Short stature, Decreased response to growth hormone stimulation... |
OMIM:603467 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Sparse scalp hair, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Edema... |
OMIM:266920 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Epidermoid cyst... |
OMIM:614114 |
Blepharocheilodontic Syndrome 1 |
|
Small nail, Nail dysplasia, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante... |
OMIM:119580 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Failure to thrive, Dehydration |
OMIM:560000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature, Duodenal atresia |
ORPHA:3004 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Abnormality of the subungual region, Gastrointestinal inflammation, Growth delay, A... |
ORPHA:79411 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Synophrys, Widow's peak, Upper eyelid edema, High palate, Thin skin, Thin eyeb... |
OMIM:617804 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmoplantar hyperhi... |
OMIM:150400 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Intestinal malrotation, Sparse eyebrow, High palate, Thin skin, Sparse hair, Preau... |
OMIM:244450 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Intrauterine growth... |
OMIM:222470 |
Shigellosis |
|
Failure to thrive in infancy, Intestinal perforation, Thrombocytopenia, Peritonitis, Leukocytosis... |
ORPHA:810 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Sacral dimple, Short stature, Intestinal malrotation, Supernumerary nippl... |
OMIM:605039 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Dehydration |
OMIM:177735 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small for gestational age, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal hair morphology, Dermal atrophy, Thin skin, Delayed puberty, Na... |
ORPHA:90154 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Intestinal perforation, Atrophic scars, Thin skin, Hiatus hernia |
OMIM:130080 |
Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Alg6-Cdg |
|
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to thrive |
ORPHA:79320 |
Focal Dermal Hypoplasia |
|
Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Gastroesophag... |
ORPHA:2092 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Edema, Splenomegaly, Subcutaneous nodule, Weight loss |
ORPHA:33577 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:615280 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... |
OMIM:609981 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Short stature, Xerostomia, Hypopigmented skin patches,... |
ORPHA:2907 |
Glass Syndrome |
|
Short stature, Cleft palate, High palate, Thin skin, Long eyelashes, Nail dysplasia, Sparse hair |
OMIM:612313 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin, Edema |
ORPHA:455 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, High, narrow palate, Low anterio... |
ORPHA:1787 |
De Barsy Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, High palate, Thin skin, Sparse hair,... |
ORPHA:2962 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Intrauterine growth retardati... |
OMIM:616353 |
Short Syndrome |
|
Small for gestational age, Birth length less than 3rd percentile, Ovarian cyst, Thin skin, Intrau... |
OMIM:269880 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Thrombocytopenia, Generalized hy... |
ORPHA:3322 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Cryptorchidism, Low anterio... |
OMIM:618440 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Tetrasomy 12P |
|
Short stature, Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Sparse ha... |
ORPHA:884 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Celiac disease, Primary adrenal insufficiency, Hypopigmented skin p... |
ORPHA:3143 |
Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Asplenia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Polysplenia, Duodenal atresia |
OMIM:619608 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiect... |
ORPHA:1655 |
Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:300406 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymp... |
OMIM:235255 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia, Enterocolitis, Fail... |
OMIM:616050 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Severe short stature, Hiatus hernia, Gastroesophageal reflux, Thin skin, Esophagitis |
ORPHA:1901 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Cleft palate, Hypohidrosis, Spa... |
ORPHA:2316 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Short stature, Lymphedema, Pancreatic cysts, Polysplenia |
OMIM:211890 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Anemia |
OMIM:251110 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Chylomicron Retention Disease |
|
Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat... |
OMIM:246700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... |
OMIM:129900 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, H... |
OMIM:617052 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Celiac disease, Postnatal growth retardation, Thyroiditis, Delayed puberty |
OMIM:618985 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... |
OMIM:608615 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonit... |
ORPHA:2552 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Brittle hair, Short stature, Bilateral cryptorchidism, Pyloric st... |
OMIM:616395 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Sparse facial hair, Sparse axillary hair, Small for gestational age, Intrauterine ... |
OMIM:608154 |
Campomelia, Cumming Type |
|
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p... |
ORPHA:1318 |
Premature Aging Syndrome, Penttinen Type |
|
Skin nodule, Corneal stromal edema, Thin skin, Dermal atrophy, Sparse hair, Keloids, Failure to t... |
OMIM:601812 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cr... |
ORPHA:3051 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Short stature, Atrophic scars, High palate, Thin skin, Thick eyebrow |
ORPHA:230851 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Leukopenia, Neutropenia, Intrauterine grow... |
OMIM:616271 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... |
ORPHA:652 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... |
ORPHA:79303 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Steatorrhea, High palate, Hyperechog... |
OMIM:617941 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units, Sparse eyebr... |
OMIM:601345 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercortisolism, Stria... |
OMIM:610489 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... |
ORPHA:30391 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Leukocytosis, Lipid accumulation in hepatocyte... |
ORPHA:20 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Congenital pyloric atresia, Neona... |
OMIM:619817 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Cryptorchidism, Decreased circulating aldosterone level, De... |
ORPHA:90791 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anu... |
OMIM:151050 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration, Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thri... |
ORPHA:99885 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ... |
ORPHA:181 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, He... |
OMIM:304790 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Decreas... |
OMIM:606367 |
Xeroderma Pigmentosum |
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Macule, Alopecia, Short stature, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patche... |
ORPHA:910 |
Stuve-Wiedemann Syndrome 1 |
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Short stature, Hyperhidrosis, Smooth tongue, Thin skin, Dysphagia, Sparse hair, Milia, Oligohydra... |
OMIM:601559 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis, Paronychia, Failure to thrive, Onychogryposis |
OMIM:614328 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
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Short stature, Small for gestational age, Postnatal growth retardation, Synophrys, Sparse hair, T... |
OMIM:611091 |
Fanconi Anemia, Complementation Group S |
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Short stature, Low anterior hairline, Narrow palate, Ovarian neoplasm, Long eyelashes, Ovarian ca... |
OMIM:617883 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy |
OMIM:619063 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hypothyroidism, Hyperthyroidism, Gastroesophageal reflux, Thin skin |
ORPHA:449291 |
Trigonocephaly 1 |
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Preauricular skin tag, High, narrow palate, Synophrys, Meckel diverticulum |
OMIM:190440 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
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Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Atypical Werner Syndrome |
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Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Alopecia, Aplasia/Hypoplasia o... |
ORPHA:79474 |
Cushing Disease |
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Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Hirsu... |
ORPHA:96253 |
Cardiocranial Syndrome, Pfeiffer Type |
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Short stature, Cryptorchidism, High, narrow palate, Abnormal hair whorl, Growth delay, Sparse hai... |
ORPHA:2872 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
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Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Sparse body hair |
OMIM:618535 |
Cartilage-Hair Hypoplasia |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Anal stenosis, Fair hair... |
OMIM:250250 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... |
OMIM:602400 |
Hypotrichosis Simplex Of The Scalp |
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Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Hereditary Mucoepithelial Dysplasia |
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Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Sparse hair |
ORPHA:1839 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Delayed pubert... |
OMIM:616817 |
Rothmund-Thomson Syndrome, Type 2 |
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Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Small for gestation... |
OMIM:268400 |
Atrophoderma Vermiculata |
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Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
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Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
Meier-Gorlin Syndrome 1 |
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Small for gestational age, Hyperconvex nail, Cryptorchidism, Cleft palate, Birth length less than... |
OMIM:224690 |
Alopecia-Intellectual Disability Syndrome |
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Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:2850 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Alopecia, Failure to thrive, Edema, Skin erosion, Esophageal stricture, Paronychia, Dehydration, ... |
ORPHA:79404 |
Congenital Contractural Arachnodactyly |
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Intestinal malrotation, Tracheoesophageal fistula, High palate, Slender build, Duodenal atresia |
ORPHA:115 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Nail pits, Premature ... |
OMIM:127550 |
Ulerythema Ophryogenesis |
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Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow |
ORPHA:3406 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Mirage Syndrome |
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Lymphopenia, Short stature, Cryptorchidism, Esophageal stricture, Thrombocytopenia, Leukopenia, G... |
OMIM:617053 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Short stature, Cryptorchidism, Growth delay, Thin skin, Anemia |
ORPHA:2719 |
Fryns Syndrome |
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Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Large f... |
OMIM:229850 |
Trichothiodystrophy 5, Nonphotosensitive |
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Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Spar... |
OMIM:300953 |
Anauxetic Dysplasia 2 |
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Short stature, Macroglossia, Small nail, Nail dysplasia, Sparse hair, Intrauterine growth retarda... |
OMIM:617396 |
Hyperchlorhidrosis, Isolated |
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Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
Adams-Oliver Syndrome 6 |
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Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal varix, Hepatic fibrosis, Apla... |
OMIM:616589 |
Hypotrichosis 6 |
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Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Beta-Ketothiolase Deficiency |
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Hepatomegaly, Edema, Leukocytosis, Dehydration, Weight loss, Thrombocytosis |
ORPHA:134 |
2Q32Q33 Microdeletion Syndrome |
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Short stature, Cleft palate, Fine hair, Growth delay, High palate, Sparse hair, Decreased testicu... |
ORPHA:251019 |
Adams-Oliver Syndrome 5 |
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Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Esophageal varix, Cuti... |
OMIM:616028 |
Methylmalonic Aciduria, Cbla Type |
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Hepatomegaly, Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Anemia |
OMIM:251100 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Hypoplastic fingernail, Postnatal growth retardation, Cryptorchidism, Dehydration, ... |
ORPHA:96191 |
Palmoplantar Keratoderma And Woolly Hair |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Decreased body weight, Esophageal stenosis, Failure to thrive, Anal fissure, Nevus, Skin erosion,... |
ORPHA:89842 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Intrauterine growth retardation, Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
Joubert Syndrome 37 |
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Hepatomegaly, Short stature, Cryptorchidism, Obesity, High palate, Sparse hair, Decreased testicu... |
OMIM:619185 |
Trichothiodystrophy 1, Photosensitive |
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Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Small for gestational age, Ma... |
OMIM:601675 |
Dextrocardia |
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Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Growth delay, Failure to thrive, Dehydration |
OMIM:615453 |
Hypotrichosis 13 |
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Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Moderate postnatal growth retardation, Dehydration |
ORPHA:69076 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Hypothyroidism, H... |
OMIM:616263 |
Alopecia Antibody Deficiency |
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Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Xan... |
OMIM:232220 |
Trichodental Dysplasia |
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Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Nail dystrophy, Bone marr... |
OMIM:615190 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Juvenile myelomonocytic leukemia, Failure to thrive, Short stature, Polyhydramnios, Lymphedema, P... |
OMIM:613563 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
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Hyperaldosteronism, Dehydration |
OMIM:620126 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Small for gestational age, Proportionate short stature, Synophrys, Low anterior hairline, Fine ha... |
ORPHA:391408 |
Ruijs-Aalfs Syndrome |
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Short stature, Hepatocellular carcinoma, Premature graying of hair, Decreased body weight, Sparse... |
OMIM:616200 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyperaldosteronism, Dehydration |
OMIM:620125 |
Aredyld Syndrome |
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Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation, Sparse body... |
ORPHA:1133 |
Feingold Syndrome 1 |
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Accessory spleen, Jejunal atresia, Polyhydramnios, Asplenia, Esophageal atresia, Gastrointestinal... |
OMIM:164280 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption |
ORPHA:79302 |
Duodenal Atresia |
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Duodenal atresia |
OMIM:223400 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
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Small for gestational age, Neutropenia, Dysphagia, Sparse hair, Intrauterine growth retardation, ... |
OMIM:618253 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Frontal upswe... |
OMIM:617798 |
Xp22.13P22.2 Duplication Syndrome |
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Short stature, Polycystic ovaries, Truncal obesity, High palate, Sparse hair, Macroorchidism, Hig... |
ORPHA:284180 |
Cystinosis, Nephropathic |
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Hepatomegaly, Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Oral-pharyng... |
OMIM:219800 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Facial edema, Periorbital edema, Prostatitis... |
ORPHA:449432 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
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Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... |
OMIM:604536 |
Ablepharon Macrostomia Syndrome |
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Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Thin skin, Spar... |
ORPHA:920 |
Glucose-Galactose Malabsorption |
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Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Chylomicron Retention Disease |
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Increased hepatocellular lipid droplets, Acanthocytosis, Growth delay, Steatorrhea, Fat malabsorp... |
ORPHA:71 |
Lipodystrophy, Familial Partial, Type 7 |
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Sparse scalp hair, Small for gestational age, Recurrent pancreatitis, Thin skin, Dysphagia, Spars... |
OMIM:606721 |
Flynn-Aird Syndrome |
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Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Esophageal atresia, Congenital pyloric... |
OMIM:226730 |
Acces Syndrome |
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Sparse scalp hair, Supernumerary nipple, Tracheoesophageal fistula, Failure to thrive, Aplasia cu... |
OMIM:619959 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
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Short stature, Sparse eyelashes, Postnatal growth retardation, Cryptorchidism, Sparse eyebrow, Gr... |
OMIM:613026 |
Syndromic Diarrhea |
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Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... |
ORPHA:84064 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Alopecia, Short stature, Cirrhosis, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
Esophageal Atresia |
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Barrett esophagus, Small for gestational age, Intestinal malrotation, Polyhydramnios, Failure to ... |
ORPHA:1199 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ... |
ORPHA:257 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Geroderma Osteodysplastica |
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Growth delay, Severe short stature, Thin skin |
ORPHA:2078 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymph... |
OMIM:235510 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Colonic Atresia |
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Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Anhidrosis, Splenomegaly, Hypohidrosis, Aplasia of the sweat gla... |
OMIM:612132 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... |
ORPHA:456312 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Premature graying of hair, Thin skin |
OMIM:112250 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Short uvula, Hydrops fetalis, Cleft palate, Fine hair, High palate, Hepatic fibros... |
OMIM:614091 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Polyhydramnios, Absent eyelashes, Skin erosion, Sparse eyebrow, Sub... |
OMIM:275210 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Agenesis of pineal gland, Numerous nevi, Short stature, Lymphedema, Cryptorchi... |
ORPHA:536471 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay,... |
OMIM:615508 |
Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, High, narro... |
OMIM:615873 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Atelosteogenesis Type I |
|
Rhizomelia, Polyhydramnios, Malrotation of colon, Cleft palate, Neonatal short-trunk short statur... |
ORPHA:1190 |
Arterial Tortuosity Syndrome |
|
Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Thin skin, Esophagitis, Median cleft li... |
ORPHA:3342 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Eunuchoid habitus, Short stature, Obesity, Sparse body hair, Decreased testicular size |
ORPHA:2234 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atr... |
OMIM:243605 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Atrophic scars, High palate, Thin skin, Oligohydramnios |
ORPHA:536467 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Aplasia cutis congenita, Toenail dysplasia |
OMIM:615297 |
Arterial Tortuosity Syndrome |
|
High palate, Bifid uvula, Thin skin, Hiatus hernia |
OMIM:208050 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth... |
OMIM:300514 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, Oligohydr... |
OMIM:257300 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... |
ORPHA:679 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Cleft palate, Anteriorly placed anus, Growth delay, Sparse hair, Thrombocytopenia |
OMIM:619980 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Cryptorchidism, High, narrow palate, L... |
OMIM:619745 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Intestinal malrotation, Generalized h... |
ORPHA:1553 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Hypertonic dehydration |
OMIM:304800 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Furrowed tongue, Hypohidrosis, Nail dystrophy, Sparse hair,... |
ORPHA:140936 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Short stature, Polyhydramnios, Increased nuchal translucency, Cleft palate,... |
ORPHA:1052 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Brittle hair, Short stature, Slow-growing hair, Failur... |
ORPHA:1340 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Jaundice, Hydrops fetalis, Dehydration, Growth delay, Neutropenia, Intraute... |
ORPHA:79282 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita... |
ORPHA:913 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... |
OMIM:234050 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Epidermoid cyst, Pilomatrixoma, Adenomatous colonic... |
ORPHA:247806 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Epidermoid cyst, Multiple gastric polyps, Adenocarcinoma of the small intesti... |
ORPHA:733 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Short stature, Failure to thrive in infancy, High, narrow palate, Pitu... |
ORPHA:96149 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Oral-pharyngeal dysphagia, Gastrointestinal dysmotilit... |
ORPHA:2131 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Short stature, Malabsorption, Cryptorchidism, Narrow pala... |
ORPHA:534 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, Failure to thrive, High palate, Dysphagia |
OMIM:620001 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Hyperhidrosis |
OMIM:613576 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Epidermoid cyst, Ampulla of Vater carcinoma, Piloma... |
ORPHA:79665 |
Fryns Syndrome |
|
Hypoplastic fingernail, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cryptorchi... |
ORPHA:2059 |
Agel Amyloidosis |
|
Tongue atrophy, Edema, Xerostomia, Blepharochalasis, Abnormal spleen morphology, Nail dystrophy, ... |
ORPHA:85448 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia, Cleft palate |
OMIM:164180 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly... |
OMIM:614700 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Short stature, Sparse eyelashes, Failure to thrive, ... |
OMIM:264090 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Primary adrenal insufficiency, Skin ulcer, Dermal atrophy |
ORPHA:2047 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Numerous nevi, Curly hair, Short stature, Slow-growing hair, Polyhydramnios, Abse... |
OMIM:115150 |
Jacobsen Syndrome |
|
Short stature, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Thrombocytopenia, Abnorm... |
ORPHA:2308 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Low anterior hairline, Upper eyelid edema, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Polyhydramnios, Pancreatic fibrosis, Short stature |
OMIM:615503 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Intrauterine growth retardation, Small for gestational age, Sparse hair |
OMIM:610756 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... |
OMIM:209920 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Intestinal malrotation, Supernumerary nipple, Polyhydramnios, Highly arched eyebro... |
OMIM:615485 |
Microform Holoprosencephaly |
|
Short stature, Hypothyroidism, Cleft palate, Intrauterine growth retardation, Panhypopituitarism,... |
ORPHA:280200 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:168558 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Polyhydramnios, Cryptorchidism, Cleft palate, Intrauterine growth retardation, Fai... |
OMIM:247200 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin erosion, Anony... |
OMIM:609638 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Malabsorption, Dehydration, Growth delay, Failu... |
ORPHA:47159 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Asplenia, Esophageal atresia, ... |
OMIM:265380 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:1883 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Cryptorchid... |
ORPHA:289548 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dystrophy, Aplasia cu... |
OMIM:300887 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Short stature, Hyperconvex nail, Gastroesophageal reflux, Sparse hair, Failure to thrive |
OMIM:619721 |
Cat Eye Syndrome |
|
Preauricular pit, Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal at... |
OMIM:115470 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Obesity, Malabsorption |
OMIM:600955 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Desmosterolosis |
|
Severe short stature, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Splenomegaly, Submu... |
ORPHA:35107 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... |
ORPHA:158684 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Skin ulcer, Palmoplantar hyperhidrosis, Ski... |
ORPHA:659 |
Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Short stature, Abnormal hair whorl, Skin ulcer... |
ORPHA:902 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Thin skin, Sparse ... |
OMIM:200110 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Cryptorchidism, Widow's peak, Furrowed tongue, High palate, Gastroesophageal reflu... |
OMIM:616975 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Failure to thrive, Short stature, Polyhydramnios, Large for gestat... |
OMIM:607721 |
Desbuquois Syndrome |
|
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... |
ORPHA:1425 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Pancreatitis, Dysphagia, Me... |
OMIM:155310 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Short stature, Duodenal ulcer, Lymphedema, Low posterior hairline, Web... |
OMIM:605822 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proport... |
OMIM:619510 |
Serkal Syndrome |
|
Growth delay, Malrotation of small bowel, Oligohydramnios |
ORPHA:139466 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr... |
OMIM:613451 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Obesity, Narrow pa... |
ORPHA:870 |
Rothmund-Thomson Syndrome Type 1 |
|
Short stature, Alopecia totalis, Small for gestational age, Aplastic anemia, Facial edema, Crypto... |
ORPHA:221008 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, High, narrow palate, Rec... |
ORPHA:79076 |
Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus... |
OMIM:609313 |
Scarf Syndrome |
|
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Webbed neck,... |
ORPHA:3134 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Bilateral cleft lip and palate, Hypohidrosis, Dystrop... |
ORPHA:3253 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
Papillon-Lefèvre Syndrome |
|
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,... |
ORPHA:678 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia |
ORPHA:1515 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Polyhydramnios, Edema, Postnatal growth retardation, Sparse eyebrow... |
OMIM:302960 |
Poikiloderma With Neutropenia |
|
Short stature, Edema, Sparse eyebrow, Splenomegaly, Low posterior hairline, Growth delay, Leukope... |
OMIM:604173 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... |
ORPHA:567983 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia |
OMIM:185070 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Short stature, Skin ulcer, Fine hair, Hypohidrosis, Sparse hair |
ORPHA:1806 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Cachexia, Abnormal hair morphology, Weight loss, Premature grayin... |
ORPHA:1979 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Small for gestational age, Cryptorchidism, Esophageal atresia, Throm... |
OMIM:227646 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Splenomegaly, Thrombocytopenia, Fine hair, Truncal obesity, Leukopen... |
OMIM:222700 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Small for gestational age, Cryptorchidism, Pyloric ... |
ORPHA:464306 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Cryptorchidism, Truncal obesity, Sparse hair, Decreased testicular size, Thick eye... |
ORPHA:127 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Protein-losing ente... |
OMIM:618183 |
Trichorhinophalangeal Syndrome, Type I |
|
Short stature, Thin nail, Slow-growing hair, Concave nail, Narrow palate, Leukonychia, Growth del... |
OMIM:190350 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Lymphopenia, Follicular hyperplasia, Paratracheal lymphadenopathy,... |
OMIM:615934 |
Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
Pyruvate Carboxylase Deficiency |
|
Growth delay, Hepatomegaly, Failure to thrive, Dehydration |
ORPHA:3008 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Polyhydramnios, Cryptorchidism, Oligohydramnios, Birth length less tha... |
ORPHA:464311 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Synophrys, Atypical scarring of skin, High palate, Thin skin |
ORPHA:536545 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Hyper... |
OMIM:257980 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits... |
OMIM:308300 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hyperthyroidism, Short stature, Decreased response to growth hormone stimulati... |
ORPHA:3455 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Duodenal stenosis |
ORPHA:2547 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Abnormality of thyroid physiology, Dehydration |
ORPHA:411629 |
Macs Syndrome |
|
Alopecia, Palpebral edema, Short stature, Sparse eyebrow, Cryptorchidism, High palate, Decreased ... |
OMIM:613075 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Anal stenosis, Sacral dimple, Short stature, Intestinal malrotation, Cryptorchidism, P... |
OMIM:305450 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Sparse hair,... |
ORPHA:1005 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Failure to thrive |
ORPHA:223 |
Rothmund-Thomson Syndrome Type 2 |
|
Short stature, Alopecia totalis, Small for gestational age, Aplastic anemia, Facial edema, Crypto... |
ORPHA:221016 |
Colchicine Poisoning |
|
Leukocytosis, Alopecia, Dehydration |
ORPHA:31824 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Small for gestational age, High palate, Low posterior hairline |
OMIM:613174 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile n... |
ORPHA:77258 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Nail dysplasia, Small nail, Failure to thrive, Bifid uvula |
OMIM:601110 |
Revesz Syndrome |
|
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... |
OMIM:268130 |
Kid Syndrome |
|
Failure to thrive, Psoriasiform dermatitis, Sparse eyelashes, Postnatal growth retardation, Scarr... |
ORPHA:477 |
Scedosporiosis |
|
Subcutaneous nodule, Pleural empyema, Abnormal jejunum morphology |
ORPHA:449280 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Growth delay, High palate, Dermal atrophy, Sparse hair |
OMIM:608612 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Orchitis, Jaundice, Odyn... |
ORPHA:99826 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Small for gestational age, Polyhydramnios, Dehydration, Hyper... |
OMIM:601678 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce... |
OMIM:619573 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intra... |
OMIM:311900 |
Bohring-Opitz Syndrome |
|
Short stature, Synophrys, Naevus flammeus of the eyelid, Hypertrichosis, Cleft palate, Severe fai... |
ORPHA:97297 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:1231 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Hypothyroidism, Patchy alopecia, Short stature |
OMIM:617763 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Epidermoid cyst, Early balding, Adenomatous colonic polyposis, Desmoid tumors... |
ORPHA:261584 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Epidermoid cyst, Sparse eyelashes, Sparse eyebrow, High, narrow palate, G... |
OMIM:230740 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Short stature, Frontal balding, Primary adrenal insufficien... |
ORPHA:90794 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue no... |
OMIM:311200 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Thick hair, Postnatal growth retardation, Coarse hair, High palate, Sparse hair, I... |
ORPHA:357074 |
Cholera |
|
Achlorhydria, Dehydration |
ORPHA:173 |
Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, Alopecia totalis, Small for gest... |
ORPHA:2909 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... |
ORPHA:288 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Dehydration, Hyperhidrosis, Dysphagia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Short stature, Protruding tongue, Postnatal growth retardation, Long eyelashes, Sp... |
OMIM:212066 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Polyhydramnios, Asplenia, Posteriorly placed anus, Hypoplastic toenails, Biliary at... |
OMIM:306955 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Cryptorchidi... |
ORPHA:1647 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Dehydration, Growth delay, Failure to thrive |
ORPHA:18 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Short stature, Polycystic ovaries |
OMIM:268020 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nevus flammeus, Polycythemia, Polyhydramnios, Large for gestational age, Cryptorchi... |
ORPHA:116 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Oligohydramnios |
OMIM:614219 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Cleft palate, Atrophic scars, Decreased body weight, Sparse hair |
OMIM:615349 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... |
OMIM:614594 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Short stature, Decreased response to growth hormone stimulation t... |
ORPHA:1896 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Cleft palate, Patchy ... |
OMIM:106260 |
Oligomeganephronia |
|
Small for gestational age, Dehydration |
ORPHA:2260 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... |
OMIM:611174 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sacral dimple, Rhizomelia, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Ab... |
ORPHA:175 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the skin, Short stature, Nevus, Cryptorchidism, Cleft palate, Low posterior... |
ORPHA:2990 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Epidermoid cyst, Adenomatous colonic polyposis, Multiple gastric polyps, Desm... |
OMIM:175100 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Small for gestational age, Failure to thrive in infancy, Submucous c... |
OMIM:618891 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis |
ORPHA:100976 |
Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Severe short stature, Small for gestational age, Anhidrosis, Postnatal gr... |
OMIM:133540 |
Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Hamartoma of tongue, Lip pit, Pancreatic cysts, Abnormality of the pancre... |
ORPHA:2750 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Preauricular skin ... |
OMIM:601358 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Oral-pharyngeal dysphagia, Postnatal growth retardation, High, narrow palate, Apla... |
OMIM:300966 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair |
OMIM:620075 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphoc... |
OMIM:619991 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Submucous cleft hard pa... |
ORPHA:1071 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
Juvenile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Hypothyroidism, Dehydration |
ORPHA:411634 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Dehydration |
ORPHA:230 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Cryptorchidism, Pyloric stenosis, Intrauterine growth retardation, A... |
OMIM:147791 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Acanthocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Dec... |
ORPHA:96180 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duode... |
ORPHA:391641 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Proportionate short stature, Spar... |
OMIM:234100 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb short stature, Sparse... |
OMIM:616541 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Hyperhidrosi... |
ORPHA:96123 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Abnormality of the spleen, Ski... |
ORPHA:548 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Severe failure to thr... |
ORPHA:89938 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Narrow palate, High palate, Disproportionate short-limb short stature, Spa... |
OMIM:618644 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... |
OMIM:620005 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, High palate |
OMIM:614105 |
Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Short stature |
ORPHA:2833 |
1P36 Deletion Syndrome |
|
Macule, Abnormal eyebrow morphology, Short stature, Abnormality of the spleen, Cryptorchidism, Py... |
ORPHA:1606 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair |
OMIM:224900 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Hypermobile Ehlers-Danlos Syndrome |
|
Malabsorption, Gastrointestinal dysmotility, Subcutaneous nodule, Anorectal anomaly, Atypical sca... |
ORPHA:285 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Leukopenia, Split nail... |
OMIM:305000 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Periorbital edema, Peritonitis, Mediastinal ... |
ORPHA:73263 |
Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Cleft pal... |
ORPHA:2886 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Growth delay, Anemia, Atrophic scars, Smooth... |
ORPHA:79396 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Tracheoesophageal fistula, Sparse body hair |
ORPHA:3068 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Furrowed tongue, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Spa... |
OMIM:158310 |
White-Sutton Syndrome |
|
Short stature, Obesity, Cleft palate, Gastroesophageal reflux, High palate, Sparse hair, Intraute... |
OMIM:616364 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Neonatal death, Intra... |
OMIM:601186 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Thrombocytopenia, Abnormality of the lympha... |
ORPHA:464329 |
Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Aplasia cutis congenita |
OMIM:614814 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, ... |
OMIM:263520 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Short stature, Polyhydramnios, Preauricular skin tag, Rectal prolapse, Pseudohypop... |
OMIM:617157 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, High palate, Thin skin, Bifid uvula, Striae distensae |
ORPHA:60030 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Sparse hair, Nevus flammeus ... |
OMIM:616449 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Preauricular pit, Absent nipple, Aplasia of the thymus, Short stature, Polyhydramnios, Sparse eye... |
OMIM:620186 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,... |
OMIM:181270 |
Warburg-Cinotti Syndrome |
|
Joint swelling, High palate, Thin skin |
OMIM:618175 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Crypto... |
ORPHA:286 |
Marshall Syndrome |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Cleft palate, Hypohidrosis, High palate, Sparse ... |
ORPHA:560 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Nephronophthisis 13 |
|
Pancreatic cysts, Growth delay, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Small for gestational age, Growth delay, Small nail, Nail dysplasia, Sparse hair, Fai... |
OMIM:614813 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin, Aganglionic megacolon, Polyhydramnios, Growth delay, Failure to t... |
ORPHA:3339 |
Coffin-Siris Syndrome 1 |
|
Dry hair, High palate, Short stature, Cryptorchidism, Intussusception, Hypertrichosis, Duodenal u... |
OMIM:135900 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Abnormal tongue morphology, Hypohidrosis, Anoperineal fistula, Nail dystrophy, Spa... |
ORPHA:158668 |
Branchiooculofacial Syndrome |
|
Postauricular pit, Premature graying of hair, Gastroesophageal reflux, Sparse hair, Ectopic thymu... |
OMIM:113620 |
Short Syndrome |
|
Sparse hair, Alopecia, Severe short stature, Weight loss |
ORPHA:3163 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Short stature, Polyhydramnios, Dehydration, Hyperaldosteronism, Failur... |
OMIM:241200 |
Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Dehydration |
OMIM:607364 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Short stature, Thin nail, Small for gestational age, Gastrointestinal dysmotility, Gr... |
OMIM:617799 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Aplasia cutis congenita of scalp, Abnormality of the na... |
OMIM:243800 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
Trisomy 8P |
|
Sacral dimple, Cryptorchidism, Malrotation of small bowel, Cleft palate, Low posterior hairline, ... |
ORPHA:264450 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline,... |
OMIM:250410 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... |
ORPHA:564 |
Keutel Syndrome |
|
Alopecia, Short stature, Dermal atrophy |
ORPHA:85202 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Cryptorchidism, Breast hypoplasia, Cleft palate, Sparse body hair, Hypoplasia ... |
ORPHA:432 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Polyhydramnios, Sparse eyebrow, Splenomegal... |
OMIM:613610 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Hypothyroi... |
OMIM:212065 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Esophag... |
ORPHA:391487 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... |
ORPHA:51636 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Short stature, Hypoplastic toenails, Cleft palate, Intrauterine growth retardation, Annular pancr... |
ORPHA:488642 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Polyhydramnios, Concave nail, Pyloric steno... |
OMIM:218040 |
Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Webbed neck, ... |
OMIM:312830 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Preauricular pit, Sacral dimple, Short stature, Small for gestational age, High... |
OMIM:194190 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Intestinal malrotation, Biliary atresia, Oligohydra... |
ORPHA:2255 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Short stature, Polyhydramnios, Duodenal atresia |
OMIM:618846 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Woolly hair, Atypical scarr... |
ORPHA:565 |
Marshall-Smith Syndrome |
|
Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Pyl... |
OMIM:602535 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Postnatal growth retardation, Cryptorchidism, Cleft palate, Fine hair, High palate, Sparse hair, ... |
ORPHA:251028 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... |
ORPHA:93111 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Cryptorchidism, Severe failure to thrive, Intrauterine growth retardation, ... |
ORPHA:468631 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Jaundice, Bile du... |
OMIM:208500 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Growth delay, H... |
OMIM:618500 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Alopecia, Sparse scalp hair, Postnatal growth retardation, Growth delay, High palat... |
OMIM:248370 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Anhidrosis, Short stature, Splenomegaly, Cryptorchidism, Atypical scarrin... |
OMIM:216400 |
Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Asplenia, Abdominal situs inversus, Intrauterine growth retardation, Abdo... |
OMIM:270100 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Short stature, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ... |
OMIM:617063 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Annular pancreas, High palate |
OMIM:618162 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Palpebral edema, Sparse eyebrow, Splenomegaly, Growth delay, Macroglo... |
OMIM:252500 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Cleft palate, Coarse hair, High palate, Gastroesopha... |
OMIM:607812 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Polyhydramnios, Congenital pyloric atresia, Nail dystrophy, Aplasia cutis congenita, Intestinal a... |
ORPHA:79403 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, High palate, Intrauterine growth retardation, Panc... |
ORPHA:556955 |
Charge Syndrome |
|
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Polyhyd... |
OMIM:214800 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Edema, Ga... |
ORPHA:221 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Gastroesophageal reflux, Nail dysplasia, S... |
OMIM:616682 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Dehydration, Weight loss |
ORPHA:3337 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands, Lymphedema |
OMIM:300291 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Coarse hair, High palate, Sparse hair |
ORPHA:50814 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Short stature, Oligohydramnios, Pancreatic aplasia |
ORPHA:261265 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hepatic steatosis, Dermal atrophy, Cryptorchidism |
OMIM:615381 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Malrotation of small bowel, Cleft palate, Atrophic... |
ORPHA:2953 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Esophageal stricture, Atypical scarring of skin, Inflammation of ... |
ORPHA:2908 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Rhizomelia, Pericardial effusion, Hydrops fetalis, Hypertrichosis,... |
ORPHA:79328 |
Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Aplasia/Hypoplastia of the eccrine sweat glands, Skin erosion, Sparse... |
ORPHA:1662 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Short stature, Eosinophilia, Edema of the dorsum of hands, Pancreati... |
OMIM:274000 |
Iniencephaly |
|
Polyhydramnios, Rhizomelia, Anal atresia, Duodenal atresia |
ORPHA:63259 |
Kindler Syndrome |
|
Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dermal atrophy, Dysphag... |
OMIM:173650 |
Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairli... |
OMIM:272950 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Short stature, Small for gestational age, Cryptorchidism, High palate, Sparse hair |
OMIM:300661 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple cafe-au-lait spots, Intrauteri... |
ORPHA:1556 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... |
ORPHA:444072 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive |
OMIM:140350 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
High palate, Gastroesophageal reflux, Sparse hair, Intrauterine growth retardation, Hepatic steat... |
OMIM:619934 |
Townes-Brocks Syndrome 1 |
|
Preauricular pit, Anal stenosis, Rectoperineal fistula, Small for gestational age, Cryptorchidism... |
OMIM:107480 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Aganglionic megacolon, Thin fingernail, Abnormal ... |
ORPHA:2273 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Steat... |
ORPHA:14 |
Lyme Disease |
|
Joint swelling, Skin nodule, Dermal atrophy |
ORPHA:91546 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Cleft palate, Fine h... |
ORPHA:2710 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Thin nail, Malformation of the hepatic ductal plate, Short nail, Slow-g... |
OMIM:218330 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Melanocytic nevus, Hydrocele testis, Fine hair, Sparse... |
OMIM:277590 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Highly arched eyebrow, Large for gestational age, Cleft palate, Fine hair, Hydrocel... |
OMIM:280000 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow |
OMIM:609460 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Abnormal intrahepatic bile duct morphology, Premature graying o... |
ORPHA:363618 |
Myhre Syndrome |
|
Short stature, Small for gestational age, Pericardial effusion, Cryptorchidism, Obesity, Cleft pa... |
OMIM:139210 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Short stature, Intestinal malrotation, Supernumerary nipple, Hiatus he... |
OMIM:305600 |
Roberts Syndrome |
|
Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe i... |
ORPHA:3103 |
Pancreatic And Cerebellar Agenesis |
|
Severe intrauterine growth retardation, Pancreatic hypoplasia, Failure to thrive, Anemia, Pancrea... |
OMIM:609069 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged pol... |
ORPHA:90796 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Myeloid leukemia, Generalized ... |
ORPHA:798 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu... |
OMIM:210710 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia, Dermal atrophy, Ascites |
OMIM:610965 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchidism, Extension ... |
OMIM:219000 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin, Short stature |
ORPHA:1782 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Severe short stature, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal ... |
ORPHA:2556 |
Neurocardiofaciodigital Syndrome |
|
Short stature, Small for gestational age, Sparse eyebrow, High palate, Sparse hair, Failure to th... |
OMIM:619869 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Short stature, Elevated hemoglobin A1c, Postnatal growth retardation, Sparse eyebro... |
OMIM:619127 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse hair, Fragile nails |
OMIM:164200 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Anteriorly placed anus, Int... |
ORPHA:1708 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Short stature, Anterior pituitary hypoplasia, Polyhydramnios, Highly arched ey... |
OMIM:619841 |
Oculoectodermal Syndrome |
|
Epidermal nevus, Supernumerary nipple, Lymphedema, Preauricular skin tag, Pineal cyst, Growth del... |
OMIM:600268 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Preauricular pit, Hepatomegaly, Exaggerated median tongue furrow, Intestinal malrotation, Supernu... |
OMIM:312870 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia |
OMIM:193300 |
Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Velopharyngeal insufficiency, Lo... |
OMIM:209885 |
Scalp-Ear-Nipple Syndrome |
|
Abnormal fingernail morphology, Palpebral edema, Hypohidrosis, Breast aplasia, Sparse hair |
ORPHA:2036 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anal fissure, Gastrointestinal inflammation, Growth delay, Iron deficiency anemia, Atrophic scars... |
ORPHA:79408 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Sparse scalp hair, Mild postnatal growth retardation, Bilateral cryptorchidism... |
OMIM:150230 |
Chime Syndrome |
|
Skin ulcer, Acute leukemia, Cleft palate, Fine hair, Sparse hair |
ORPHA:3474 |
Hypoplasminogenemia |
|
Duodenal ulcer, Abnormality of the ovary |
ORPHA:722 |
Acute Radiation Syndrome |
|
Skin ulcer, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Atrophic scars, High palate,... |
OMIM:601776 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Asymmetric, linear skin defects, Cleft palate, Anteriorly placed anus, Colonic atr... |
OMIM:309801 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Polyhydramnios, Anteriorly placed anus, Sparse hair, Bifid uvula, Al... |
OMIM:601803 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Aplasia/Hypoplasia of the skin, Cryptorchidism, High, narrow palate, Submuc... |
ORPHA:2658 |
Renpenning Syndrome 1 |
|
Brittle hair, Short stature, Cleft palate, High palate, Sparse hair, Decreased testicular size, A... |
OMIM:309500 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Gastroesophageal reflux, Bro... |
OMIM:619472 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Biliary tract abn... |
OMIM:268300 |
Wrinkly Skin Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, High palate, Sparse hair, Intrauteri... |
ORPHA:2834 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Severe short stature, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, C... |
ORPHA:2636 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Short stature, Dermal atrophy, Cachexia |
ORPHA:220295 |
Genitopatellar Syndrome |
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Sparse scalp hair, Anal stenosis, Polyhydramnios, Cryptorchidism, Malrotation of small bowel, Ant... |
OMIM:606170 |
Down Syndrome |
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Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Acute megakaryocytic ... |
OMIM:190685 |
Wrinkly Skin Syndrome |
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Short stature, Short nail, Cryptorchidism, High palate, Sparse hair, Intrauterine growth retardat... |
OMIM:278250 |
Subacute Cutaneous Lupus Erythematosus |
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Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Xeroderma Pigmentosum, Variant Type |
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Growth delay, Dermal atrophy |
OMIM:278750 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula |
ORPHA:90349 |
De Sanctis-Cacchione Syndrome |
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Bilateral cryptorchidism, Dermal atrophy, Severe short stature, Hypermelanotic macule |
OMIM:278800 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Decreased testicular size, Fine hair |
OMIM:241080 |
Hutchinson-Gilford Progeria Syndrome |
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Absent eyebrow, Hypermelanotic macule, Alopecia totalis, Loss of eyelashes, Weight loss, Dystroph... |
ORPHA:740 |
Baller-Gerold Syndrome |
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Severe short stature, Short stature, Anomalous splenoportal venous system, Cleft palate, Perineal... |
OMIM:218600 |
Primrose Syndrome |
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Sparse scalp hair, Short stature, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, S... |
OMIM:259050 |
Autosomal Dominant Cutis Laxa |
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Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
Menke-Hennekam Syndrome 1 |
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Cryptorchidism, Cleft palate, High palate, Gastroesophageal reflux, Long eyelashes, Sparse hair, ... |
OMIM:618332 |