| Leptin Receptor Deficiency |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal eating behavior, A... |
OMIM:614963 |
| Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
| Dystonia 30 |
|
Diffuse cerebral atrophy, Impulsivity, Aggressive behavior, Compulsive behaviors, Hypothalamic ha... |
OMIM:619291 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor, Anorexia |
ORPHA:79283 |
| Chronic Hiccup |
|
Weight loss, Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Failure to thrive, Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth ... |
OMIM:601410 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Dry skin, Hypothyroidism, Short stature |
OMIM:275120 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Redundant skin |
OMIM:301021 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
| Central Diabetes Insipidus |
|
Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Reticular Dysgenesis |
|
Skin ulcer, Weight loss, Dehydration, Failure to thrive, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Large for ges... |
ORPHA:324575 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Pallor, Agitation, Hyperin... |
ORPHA:276575 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Agitation, Pallor, Pancreatic islet-cell hyperplasia, Hy... |
ORPHA:276608 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Pallor,... |
ORPHA:276580 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorde... |
OMIM:261600 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation, Decreased circu... |
OMIM:275100 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Small for gestational age, Cerebral atrophy, Growth delay, Focal T2 hyperin... |
OMIM:619057 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Proportionate short stature, Postna... |
ORPHA:54595 |
| Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Short stature, Erythema, Weight loss, Dry skin |
ORPHA:317 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin, Short stature |
ORPHA:1184 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Agitation, Pallor, Hyperinsulinemic hypoglycemia, Excessive insulin re... |
ORPHA:276556 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Cachexia, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to thrive |
ORPHA:363717 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Pallor, Dysphagia |
OMIM:613561 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Dry skin |
ORPHA:2101 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Growth delay, Attention deficit hyperactivity disorder, Hypothalamic ha... |
OMIM:619908 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Failure to thrive, Dehydration, Dysphagia |
OMIM:618958 |
| Rafiq Syndrome |
|
Short stature, Aggressive behavior, Obesity, Cutis laxa, Truncal obesity |
OMIM:614202 |
| Ulerythema Ophryogenesis |
|
Dry skin, Facial erythema |
ORPHA:3406 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellit... |
ORPHA:3085 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Dry skin, Dysphagia, Cutis laxa |
OMIM:612379 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Familial Cold Urticaria |
|
Polydipsia, Erythema, Dehydration |
ORPHA:47045 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin |
ORPHA:530838 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification, Brain atrophy, Dysphagia |
OMIM:618317 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Dry skin, Facial erythema |
OMIM:212360 |
| Duplication Of The Pituitary Gland |
|
Short stature, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased b... |
ORPHA:314621 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Dry skin |
ORPHA:1954 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Cutis laxa |
OMIM:301045 |
| Riddle Syndrome |
|
Dry skin, Short stature |
OMIM:611943 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Redundant neck skin, Small for gestational age, Edema, Neonatal death, Agenesis of corpus callosum |
OMIM:610498 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Atrophy of the spinal cord, Obesity, Dysphagia, Hypothalamic atrophy, Frontal cortica... |
ORPHA:2822 |
| Classic Mycosis Fungoides |
|
Erythema, Dry skin, Skin ulcer, Edema |
ORPHA:2584 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Short stature, Pallor, Anorexia |
ORPHA:49827 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... |
OMIM:610600 |
| Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... |
OMIM:262190 |
| Alg8-Cdg |
|
Failure to thrive, Small for gestational age, Edema, Hydrops fetalis, Cutis laxa, Intrauterine gr... |
ORPHA:79325 |
| Acquired Ichthyosis |
|
Erythema, Dry skin |
ORPHA:454 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity disorder, Im... |
OMIM:618929 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Caudate atrophy, Disinhibition, Cerebral cortical atrophy |
OMIM:618193 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity |
OMIM:614962 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Abnormal elasticity of skin, Dry skin, Delayed puberty |
ORPHA:486815 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Attention deficit hyperactivity disorder, Pallor, Anorexia |
OMIM:500007 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Ddost-Cdg |
|
Failure to thrive, Dry skin, Short stature, Primary hypothyroidism |
ORPHA:300536 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Decreased circulating parathyroid hormone level, Dehydration |
OMIM:143880 |
| Septo-Optic Dysplasia Spectrum |
|
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Dry skin, Agenesis of c... |
ORPHA:3157 |
| Lamellar Ichthyosis |
|
Dry skin, Short stature, Lack of skin elasticity, Dehydration |
ORPHA:313 |
| Sjögren-Larsson Syndrome |
|
Erythema, Dry skin, Short stature |
ORPHA:816 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti... |
ORPHA:99832 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Dry skin, Hypothyroidism, Goiter |
OMIM:274400 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Mild intrauterine growth retardation, Dry skin, Small for gestational age, Short stature |
OMIM:616943 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Aggress... |
ORPHA:649929 |
| Huriez Syndrome |
|
Dry skin, Lack of skin elasticity |
ORPHA:384 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Cystinosis |
|
Short stature, Nephrogenic diabetes insipidus, Hypothyroidism, Dehydration, Delayed puberty, Type... |
ORPHA:213 |
| Periodontal Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Short stature |
ORPHA:75392 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Anorexia, Dehydration |
ORPHA:79312 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Dehydration, Weight loss, Agitation, Pallor, Oral aversion |
ORPHA:134 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Pica, Obesity, Aggressive behavior |
OMIM:620191 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Short stature, Obesity |
ORPHA:1035 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Cutis laxa |
ORPHA:397941 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Dry skin, Increased body weight, Aggressive behavior |
OMIM:300860 |
| Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Dehydration, Elevated se... |
ORPHA:556030 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Agenesis of corpus callosum, Atten... |
OMIM:619312 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Hypogonadism, Scaling skin, Cutis laxa |
ORPHA:2269 |
| Progeroid Syndrome, Petty Type |
|
Short stature, Redundant skin, Cutis laxa, Intrauterine growth retardation, Failure to thrive |
ORPHA:2963 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Goiter, Decreased... |
ORPHA:95715 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Short stature, Pallor, Anorexia |
OMIM:611590 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Atelis Syndrome 1 |
|
Dry skin, Hypothyroidism, Attention deficit hyperactivity disorder |
OMIM:620184 |
| Bachmann-Bupp Syndrome |
|
Polyhydramnios, Large for gestational age, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:619075 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Attention deficit hyperactivity disorder |
OMIM:617364 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
| Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Short stature, Cutis laxa |
OMIM:619451 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, F... |
OMIM:264350 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Agenesis of corpus callosum, Failure to thrive, Small for gestational age, Dehydration |
OMIM:214150 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
| Leishmaniasis |
|
Weight loss, Pallor, Skin ulcer, Anorexia |
ORPHA:507 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... |
OMIM:177735 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration, Growth delay, Increased circulating renin level, Failure to thrive, Decreased circul... |
OMIM:203400 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification, Motor tics |
OMIM:615483 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Cerebral cortical atrophy, Decreased thalamic volume |
OMIM:619072 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Goiter, Facial edema, Pituitary h... |
ORPHA:90674 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Short stature, Redundant skin, Cachexia, Self-mutilation |
ORPHA:52503 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysphagia, Decreased body weight, Cerebr... |
OMIM:617672 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Dry skin |
ORPHA:2617 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cutis laxa, Hyperextensible skin, Intrauterine growth retardation, Failure to thrive |
OMIM:219150 |
| Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Rhizomelia, Dry skin, Short stature |
ORPHA:177 |
| Macs Syndrome |
|
Hypergonadotropic hypogonadism, Redundant skin, Palpebral edema, Short stature, Cutis laxa, Hyper... |
OMIM:613075 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Edema, Pericardial effusion, Weight loss, Ascites, Lateral ventricle dilatatio... |
OMIM:619487 |
| Congenital Heart Block |
|
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... |
ORPHA:60041 |
| Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Dry skin, Short stature |
OMIM:618116 |
| Secondary Short Bowel Syndrome |
|
Dehydration, Central hypothyroidism, Weight loss, Growth delay, Primary hypothyroidism, Failure t... |
ORPHA:95427 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perianal erythema, Short stature, Hypogonadism, Perioral erythema, Decreased s... |
OMIM:201100 |
| Complex Regional Pain Syndrome |
|
Edema of the upper limbs, Erythema, Dry skin, Pedal edema |
ORPHA:83452 |
| Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin |
OMIM:600906 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Short stature, Postnatal growth retardation, Tongue ... |
ORPHA:261323 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Growth delay, Hyperextensible skin, Short stature, Cutis laxa |
ORPHA:75496 |
| Omenn Syndrome |
|
Edema, Thyroiditis, Dry skin, Failure to thrive, Hypothyroidism |
ORPHA:39041 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin |
OMIM:619764 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Intrauterine growth retardation... |
OMIM:612940 |
| Vipoma |
|
Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... |
ORPHA:97282 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Decreased body weight, Overweight, Obesity, Lateral ventricle dilatation, Agitation, Dysphagia, I... |
OMIM:619229 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Edema, Dehydration |
ORPHA:103910 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft, doughy skin, Hyperextensible skin, Soft skin |
OMIM:130010 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Acrodermatitis Enteropathica |
|
Short stature, Anorexia, Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:37 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dry skin, Agenesis of corpus callosum, Aggressive behavior |
OMIM:619244 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Dry skin, Hypergonadotropic hypogonadism, Short stature |
OMIM:268020 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Agitation, Pallor, Pancreatic... |
ORPHA:263455 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Redundant skin, Cutis laxa, Excessive wrinkled skin, Intrauterine growth retardation, Failure to ... |
OMIM:219200 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Failure to thrive, Dehydration |
OMIM:602722 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Myopathic Ehlers-Danlos Syndrome |
|
Soft skin, Failure to thrive, Hyperextensible skin, Pallor |
ORPHA:536516 |
| Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
| Noonan Syndrome 5 |
|
Dry skin, Short stature, Polyhydramnios, Large for gestational age |
OMIM:611553 |
| Thanatophoric Dysplasia |
|
Redundant skin, Polyhydramnios, Increased nuchal translucency, Disproportionate short-limb short ... |
ORPHA:2655 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Anorexia, Pituitary ... |
ORPHA:199299 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Growth delay, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Absent pubertal growth spurt, Short stature |
ORPHA:438134 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Hypertonic dehydration, Polydipsia, Failure to thrive, Diabetes insipidus |
OMIM:304800 |
| Leopard Syndrome 2 |
|
Dry skin, Short stature |
OMIM:611554 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Nephrogenic diabetes insipidus, Hypertonic dehydration, Polydipsia, Failure to thrive |
OMIM:125800 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Colpocephal... |
OMIM:609053 |
| Adiposis Dolorosa |
|
Xerostomia, Dry skin, Hypothyroidism, Obesity |
ORPHA:36397 |
| 6P22 Microdeletion Syndrome |
|
Redundant skin |
ORPHA:251046 |
| Primary Myelofibrosis |
|
Anorexia, Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Polyphagia, Increased serum leptin, Obesity |
OMIM:617885 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin |
OMIM:617066 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Cutis laxa, Hyperextensible skin, Decreased body weight, Soft skin, Dermal translu... |
OMIM:615349 |
| Thanatophoric Dysplasia Type 2 |
|
Increased nuchal translucency, Short stature, Redundant skin, Polyhydramnios |
ORPHA:93274 |
| Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Salt craving, Failure to thrive, Adrenal hypoplasia, Anorex... |
ORPHA:95409 |
| Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
| Netherton Syndrome |
|
Dry skin, Short stature, Dehydration |
ORPHA:634 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin |
OMIM:615937 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Cutis laxa |
OMIM:619691 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Postnatal growth retardation, Cutis laxa, Intrauterine growth retardation, Premature skin wrinkli... |
OMIM:616603 |
| Craniofaciofrontodigital Syndrome |
|
Short stature, Polyhydramnios, Edema, Pericardial effusion, Large for gestational age, Cutis laxa... |
ORPHA:363705 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Short stature, Redundant skin, Postnatal growth retardation, Cutis laxa, Exc... |
ORPHA:357074 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Dry skin, Growth delay, Peau d'orange, Intrauterine growth retardation, Failure to thrive |
OMIM:614576 |
| Weaver Syndrome |
|
Redundant skin |
ORPHA:3447 |
| Cutis Laxa-Marfanoid Syndrome |
|
Redundant skin |
ORPHA:171719 |
| Menkes Disease |
|
Intrauterine growth retardation, Short stature, Cutis laxa |
OMIM:309400 |
| Distal Duplication 6P |
|
Intrauterine growth retardation, Dry skin, Short stature |
ORPHA:1745 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Dry skin, Scaling skin |
OMIM:609180 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa |
OMIM:314400 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Failure to thrive, Dehydration |
OMIM:560000 |
| Noonan Syndrome 13 |
|
Lymphedema, Aggressive behavior, Head-banging, Attention deficit hyperactivity disorder, Dry skin |
OMIM:619087 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Erythema, Hydrops fetalis, Dehydration, Pallor, Type I diabe... |
OMIM:557000 |
| Familial Melanoma |
|
Dry skin |
ORPHA:618 |
| Bohring-Opitz Syndrome |
|
Short stature, Polyhydramnios, Mesomelic/rhizomelic limb shortening, Cutis laxa, Intrauterine gro... |
OMIM:605039 |
| Squalene Synthase Deficiency |
|
Intrauterine growth retardation, Dry skin, Failure to thrive in infancy |
OMIM:618156 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pallor, Paraganglioma, Weight loss |
ORPHA:94080 |
| Leopard Syndrome 3 |
|
Growth delay, Dry skin, Short stature |
OMIM:613707 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, T2 hypointense thalamus, Cerebral atrophy, Dysphagia |
ORPHA:1947 |
| Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Failure to thrive, Adrena... |
ORPHA:85138 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Pallor, Lymphedema |
ORPHA:3226 |
| Hereditary Folate Malabsorption |
|
Failure to thrive, Pallor, Anorexia |
ORPHA:90045 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Dehydration, Pallor, Dysph... |
ORPHA:2131 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Hydroxykynureninuria |
|
Dry skin, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
| Enteric Anendocrinosis |
|
Type I diabetes mellitus, Dehydration |
ORPHA:83620 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Growth delay, Failure to thrive, Dry skin, Thyroiditis |
OMIM:617388 |
| Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Intrauterine growth retardation, Redundant neck skin, Nonimmune hydrops fetalis |
OMIM:619003 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni... |
OMIM:214700 |
| Schopf-Schulz-Passarge Syndrome |
|
Dry skin |
OMIM:224750 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Motor tics, Neurodegeneration, Compulsive behaviors |
OMIM:615643 |
| Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Cerebral atrophy, In... |
ORPHA:309246 |
| Jung Syndrome |
|
Dry skin, Hypothyroidism |
ORPHA:2321 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Dry skin, Growth delay, Intrauterine growth retardation, Failure to thrive |
ORPHA:217346 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Agitation, Pallor, Dysphagia |
ORPHA:13 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Edema, Dehydration, Weight loss, Pallor |
ORPHA:20 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Abnormality of the diencephalon, Cerebral cortical atrophy |
ORPHA:2570 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Dravet Syndrome |
|
Obsessive-compulsive trait, Pallor, Impulsivity |
ORPHA:33069 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Precocious puberty, Attention deficit hyperactivity disorder, Bruxism, Dry skin |
ORPHA:324313 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Cranioectodermal Dysplasia 4 |
|
Short stature, Cutis laxa |
OMIM:614378 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
| Propionic Acidemia |
|
Failure to thrive, Short stature, Dehydration |
OMIM:606054 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty, Hypopituitarism, Failure to thrive |
OMIM:600462 |
| Rin2 Syndrome |
|
Hyperextensible skin, Hypergonadotropic hypogonadism, Redundant skin, Upper eyelid edema |
ORPHA:217335 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Obesity, Cutis laxa |
OMIM:605309 |
| Costello Syndrome |
|
Short stature, Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity |
ORPHA:3071 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Central diabetes insipidus, Reduced circulating prolactin c... |
ORPHA:91355 |
| Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Anorexia, Nephrogenic diabetes insipidu... |
ORPHA:223 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, ... |
ORPHA:769 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Short stature, Dehydration, Central hypothyroidism,... |
ORPHA:1667 |
| Sézary Syndrome |
|
Dry skin, Edema |
ORPHA:3162 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Postnatal growth retardation, Dry skin, Growth delay, Intrauterine growth retardat... |
OMIM:613026 |
| Rahman Syndrome |
|
Redundant skin |
OMIM:617537 |
| Plummer-Vinson Syndrome |
|
Pallor, Dysphagia, Geophagia |
ORPHA:54028 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Nephrogenic diabetes insipidus, Dehydration, Failure to thrive, Oligoh... |
OMIM:208085 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:467166 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Dehydration |
ORPHA:33110 |
| Hatipoglu Immunodeficiency Syndrome |
|
Proportionate short stature, Dry skin, Intrauterine growth retardation, Failure to thrive, Petechiae |
OMIM:620331 |
| Harlequin Ichthyosis |
|
Self-injurious behavior, Dehydration |
ORPHA:457 |
| Immunodeficiency 49 |
|
Agenesis of corpus callosum, Cutis laxa |
OMIM:617237 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Restlessness |
ORPHA:68 |
| Cach Syndrome |
|
Cerebellar atrophy, T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Cerebr... |
ORPHA:135 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620126 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Dry skin, Short stature, Polyhydramnios |
OMIM:619745 |
| Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Lethal sh... |
ORPHA:1860 |
| Alg11-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:280071 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620125 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Agenesis of corpus callosum, Dry skin, Hypothyroidism, Polyhydramnios |
ORPHA:1812 |
| Ogden Syndrome |
|
Postnatal growth retardation, Cutis laxa |
ORPHA:276432 |
| Anauxetic Dysplasia 3 |
|
Severe short stature, Cutis laxa |
OMIM:618853 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short stature, Redundant skin, Postnatal growth retardation, Blepharochalasis, Hyperextensible sk... |
OMIM:225410 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Postnatal growth retardation, Short stature, Cutis laxa |
OMIM:614800 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia, Dry skin, Ascites |
OMIM:610965 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
| Agel Amyloidosis |
|
Edema, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin |
ORPHA:85448 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin |
ORPHA:1807 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Intrauterine growth retardation, Cutis laxa, Dermal translucency |
OMIM:614438 |
| Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Abnormal circulating insulin concentration, Dehydration |
ORPHA:69076 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age, Dehydration |
ORPHA:93101 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Dry skin, Facial erythema |
OMIM:308800 |
| Blepharonasofacial Malformation Syndrome |
|
Redundant skin |
ORPHA:1252 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin |
OMIM:618535 |
| Pili Torti-Onychodysplasia Syndrome |
|
Dry skin |
ORPHA:2890 |
| Juvenile Dermatomyositis |
|
Palpebral edema, Erythema, Skin ulcer, Weight loss, Dysphagia, Dry skin |
ORPHA:93672 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Disproportionate short stature, Truncal obesity, Attention deficit hyperactiv... |
ORPHA:2637 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Oligohydramnios, Redundant skin, Cutis laxa |
OMIM:219100 |
| Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Pallor, Skin ulcer |
ORPHA:848 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
| De Barsy Syndrome |
|
Short stature, Postnatal growth retardation, Cutis laxa, Excessive wrinkled skin, Intrauterine gr... |
ORPHA:2962 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Hypogonadism, Pallor |
OMIM:615234 |
| Helix Syndrome |
|
Xerostomia, Hyperparathyroidism, Dry skin, Polydipsia |
OMIM:617671 |
| Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Short stature, Lymphedema, Excessive wrinkled skin,... |
ORPHA:1340 |
| Koolen-De Vries Syndrome |
|
Hyperactivity, Small for gestational age, Short stature, Impulsivity, Dry skin, Intrauterine grow... |
OMIM:610443 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
| C Syndrome |
|
Failure to thrive, Short stature, Cutis laxa |
OMIM:211750 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Growth delay, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:485421 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Anorexia, Dehydration, Growth delay, Abnormal temper tantrums, Compulsive beha... |
ORPHA:3008 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Failure to thrive, Dehydration |
OMIM:615453 |
| Koolen-De Vries Syndrome |
|
Dry skin, Hypothyroidism, Short stature, Overfriendliness |
ORPHA:96169 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Dysphagia, Abnormal ... |
ORPHA:79264 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Polyhydramnios, Cutis laxa |
OMIM:270420 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Tangier Disease |
|
Dry skin |
OMIM:205400 |
| Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Severe short stature, Neonatal wrinkled skin of hands and feet, Cutis laxa |
OMIM:231070 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Short stature, Elevated circulating luteinizing hormone level, Elevate... |
OMIM:618419 |
| Weaver Syndrome |
|
Lateral ventricle dilatation, Polyphagia, Cutis laxa |
OMIM:277590 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Dry skin |
OMIM:618282 |
| Axenfeld-Rieger Syndrome |
|
Growth delay, Abnormality of the hypothalamus-pituitary axis, Redundant skin |
ORPHA:782 |
| Childhood Absence Epilepsy |
|
Punding, Pallor, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Short stature, Hypothalamic hamartoma |
OMIM:241800 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dry skin |
OMIM:610768 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin |
ORPHA:1028 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor |
ORPHA:99931 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Redundant skin, Disproportionate short stature, Neonatal death,... |
OMIM:616482 |
| Rheumatic Fever |
|
Erythema, Pallor, Anorexia |
ORPHA:3099 |
| Shigellosis |
|
Dehydration, Failure to thrive in infancy, Anorexia, Purpura |
ORPHA:810 |
| Noonan Syndrome 8 |
|
Short stature, Polyhydramnios, Large for gestational age, Hyperextensible skin, Palmoplantar cuti... |
OMIM:615355 |
| American Trypanosomiasis |
|
Periorbital edema, Pallor, Edema |
ORPHA:3386 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Recon Progeroid Syndrome |
|
Growth delay, Dry skin, Short stature, Scaling skin |
OMIM:620370 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Small for gestational age, Aggressive behavior, Growth delay, Bruxism, Dry skin |
OMIM:617799 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Scaling skin |
OMIM:612281 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Multinodular goiter, Scaling skin |
OMIM:618373 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Growth delay, Short stature, Redundant skin |
ORPHA:502 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Dry skin, Hypogonadism, Short stature |
OMIM:601675 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Neurodegeneration, Short stature |
OMIM:620210 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Xerostomia |
OMIM:618527 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Dry skin, Short stature, Cutis laxa |
OMIM:614099 |
| Geroderma Osteodysplastica |
|
Growth delay, Severe short stature, Hyperextensible skin, Redundant skin |
ORPHA:2078 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Dysplastic corpus callosum, Cutis laxa, Intrauterin... |
OMIM:151050 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Neurodegeneration, Compulsive behavior... |
OMIM:615157 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
| Barber-Say Syndrome |
|
Failure to thrive, Hyperextensible skin, Redundant skin |
ORPHA:1231 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Nestor-Guillermo Progeria Syndrome |
|
Short stature, Decreased serum leptin, Dry skin, Growth delay, Failure to thrive |
OMIM:614008 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
| Sepsis In Premature Infants |
|
Small for gestational age, Edema, Pallor, Decreased body weight, Petechiae, Purpura |
ORPHA:90051 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
| Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:276621 |
| Fumarase Deficiency |
|
Polyhydramnios, Ascites, Pallor, Failure to thrive, Agenesis of corpus callosum |
OMIM:606812 |
| Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Dry skin, Xerostomia |
ORPHA:238468 |
| Waldenström Macroglobulinemia |
|
Anorexia, Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Skin ulcer, Growth delay, Ad... |
ORPHA:231226 |
| Arterial Tortuosity Syndrome |
|
Soft skin, Soft, doughy skin, Hyperextensible skin, Cutis laxa |
OMIM:208050 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Ameloonychohypohidrotic Syndrome |
|
Dry skin |
OMIM:104570 |
| Oligomeganephronia |
|
Polydipsia, Small for gestational age, Dehydration |
ORPHA:2260 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Prolidase Deficiency |
|
Erythema, Dry skin, Skin ulcer |
ORPHA:742 |
| Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Dehydration, Growth delay, Polydipsia, Failure to thrive |
ORPHA:411629 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Failure to thrive, Neurodegeneration |
OMIM:245200 |
| Refsum Disease |
|
Dry skin |
ORPHA:773 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... |
ORPHA:91347 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neurod... |
ORPHA:391428 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation |
OMIM:616271 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Hypogonadism, Pallor, Adrenal insufficiency, Abnormality of the hypothalamus-pituit... |
ORPHA:300298 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy, Aggressive behavior |
OMIM:300894 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Scarf Syndrome |
|
Cutis laxa |
ORPHA:3134 |
| B4Galt1-Cdg |
|
Small for gestational age, Redundant neck skin, Hypothyroidism, Edema |
ORPHA:79332 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Redundant skin, Adrenal hypoplasia, Periorbital edema, Cutis laxa, Growth delay, Hypoplasia of th... |
OMIM:613177 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Short stature, Cachexia |
ORPHA:220295 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Short stature |
ORPHA:557003 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Growth delay, Pallor, Increased circulating prolactin concentration |
OMIM:617675 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Maternal diabetes, Growt... |
ORPHA:1199 |
| Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Redundant skin, Polyhydramnios, Edema, Intrauterine... |
ORPHA:79324 |
| Ogden Syndrome |
|
Redundant neck skin, Pulmonary edema, Redundant skin, Maternal diabetes, Facial wrinkling, Lymphe... |
OMIM:300855 |
| Coffin-Lowry Syndrome |
|
Self-injurious behavior, Short stature, Redundant skin |
ORPHA:192 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:29072 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Growth delay, Intrauterine growth retardation, Dry skin, Short stature |
OMIM:613990 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Hyperextensible skin, Short stature, Cutis laxa |
OMIM:245600 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
| Immunodeficiency 55 |
|
Postnatal growth retardation, Intrauterine growth retardation, Dry skin, Short stature |
OMIM:617827 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Short stature, Abnormal repetitive mannerisms, Skin ulcer, Dehydration, Abno... |
ORPHA:534 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin, Polyhydramnios |
OMIM:617967 |
| Lysinuric Protein Intolerance |
|
Short stature, Cutis laxa, Truncal obesity, Hyperextensible skin, Failure to thrive |
OMIM:222700 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Redundant skin, Postnatal growth retardation, Cutis laxa, Increased number o... |
ORPHA:90348 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Hyperextensible skin, Moderately short stature |
ORPHA:157965 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Growth delay, Ascites, Redundant neck skin, Edema |
OMIM:611719 |
| Fucosidosis |
|
Failure to thrive, Dry skin, Short stature, Petechiae |
OMIM:230000 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Skin ulcer, Growth delay, Ad... |
ORPHA:231214 |
| Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:619377 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
| Sandhoff Disease, Infantile Form |
|
Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure to thrive |
ORPHA:1842 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Agenesis of pineal gland, Short stature, Lymphedema, Cutis laxa, Hyperextensib... |
ORPHA:536471 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Skin ulcer, Adrenal insufficiency, Pallor, Hypogonadism, H... |
ORPHA:231222 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity, Global brain atrophy |
ORPHA:363558 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Hallermann-Streiff Syndrome |
|
Hyperactivity, Dry skin, Small for gestational age, Proportionate short stature |
OMIM:234100 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Soft skin, Hyperextensible skin, Polyhydramnios, Cutis laxa |
OMIM:614557 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Classic Phenylketonuria |
|
Growth delay, Self-injurious behavior, Lack of skin elasticity, Attention deficit hyperactivity d... |
ORPHA:79254 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Hyperextensible skin, Short stature, Dermal translucency |
OMIM:619120 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Diabetes mellitus, Dry skin, Short stature |
OMIM:601701 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Caudate atrophy, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:157846 |
| Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Small for gestational age, Decreased response to growth ho... |
ORPHA:699 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia |
ORPHA:254930 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Scaling skin |
OMIM:616295 |
| Cystinosis, Nephropathic |
|
Diabetes mellitus, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, Dyspha... |
OMIM:219800 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:404440 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Dry skin, Xerostomia, Periorbital wrinkles |
OMIM:614941 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hyperextensible skin, Redundant skin |
OMIM:618000 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Hyperextensible skin |
OMIM:617174 |
| Cholera |
|
Palmoplantar cutis laxa, Dehydration |
ORPHA:173 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration |
OMIM:251100 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Short stature, Postnatal growth retardation, Attention deficit hyperactivity ... |
ORPHA:235 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angioten... |
OMIM:241200 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation, Neurodegeneration |
ORPHA:803 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy |
OMIM:256600 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Hyperextensible skin, Redundant skin, Cutis laxa |
OMIM:123700 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| Distal Renal Tubular Acidosis |
|
Short stature, Dehydration, Growth delay, Polydipsia, Failure to thrive |
ORPHA:18 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Soft, doughy skin, Mild short stature, Hyperextensible skin |
OMIM:130060 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Scarf Syndrome |
|
Cutis laxa |
OMIM:312830 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration, Growth delay, Polydipsia, Failure to thrive, Hypothyroidism |
ORPHA:411634 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Dehydration, Weight loss, Intrauterine growth retar... |
ORPHA:99885 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion,... |
ORPHA:2526 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Postnatal growth retardation, Dysplastic corpus callosum, Excessive wrinkled skin, Hyperextensibl... |
ORPHA:357058 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Dry skin, Oligohydramnios, Compulsive behaviors, Aggressive behavior |
ORPHA:163956 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Short stature, Polyhydramnios, Pica, Intrauterine growth retardation, Agenes... |
OMIM:617360 |
| Immunodeficiency 47 |
|
Failure to thrive, Cutis laxa |
OMIM:300972 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin |
ORPHA:69087 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyp... |
ORPHA:89938 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Redundant neck skin, Oligohydramnios |
OMIM:236500 |
| Microsporidiosis |
|
Anorexia, Cachexia, Abnormality of the parathyroid gland, Thyroiditis, Dehydration, Weight loss, ... |
ORPHA:2552 |
| Emanuel Syndrome |
|
Redundant neck skin, Growth delay, Hypogonadism, Dysphagia, Intrauterine growth retardation, Fail... |
ORPHA:96170 |
| Pseudoxanthoma Elasticum |
|
Cutis laxa |
OMIM:264800 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Abnormal thalamus morphology, Attention deficit hyperactivity dis... |
ORPHA:435638 |
| X-Linked Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Short stature |
ORPHA:75497 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Edema, Cutis laxa, Failure to thrive |
OMIM:266920 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin |
ORPHA:300179 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Neurodegeneration, Dysphagia |
OMIM:615919 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Rapp-Hodgkin Syndrome |
|
Dry skin, Short stature |
OMIM:129400 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Adrenal calcification, Cachexia, Primary adrenal insufficiency, Dehydration, W... |
ORPHA:275761 |
| Trichothiodystrophy |
|
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Dry skin |
ORPHA:33364 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Lack of skin elasticity, Cachexia, Weight loss |
ORPHA:1979 |
| Macular Degeneration, Age-Related, 3 |
|
Hyperextensible skin |
OMIM:608895 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Small for gestational age, Facial wrinkling, Dysphagia, Type I diabetes mellit... |
OMIM:606721 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Dry skin |
OMIM:607626 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Dermal translucency, Diabetes mellitus, Growth delay, Hyperextensible skin, Soft, doughy skin, In... |
ORPHA:541423 |
| Dermatomyositis |
|
Edema, Periorbital edema, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:221 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Edema |
ORPHA:329971 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Small for gestational age, Short stature, Polyhydramnios, Dehydration, Hyper... |
OMIM:601678 |
| Syndromic Diarrhea |
|
Small for gestational age, Short stature, Hypoplasia of the thymus, Intrauterine growth retardati... |
ORPHA:84064 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Severe short stature, Redundant skin, Lack of skin elasticity, Cutis laxa, Intrauterine growth re... |
ORPHA:90349 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Postnatal growth retardation, Thalamic edema, Intrauterine growth ret... |
ORPHA:2177 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Redundant skin, Cutis laxa |
OMIM:617403 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Proximal Renal Tubular Acidosis |
|
Short stature, Mild postnatal growth retardation, Dehydration, Growth delay, Polydipsia, Failure ... |
ORPHA:47159 |
| Xeroderma Pigmentosum |
|
Short stature, Erythema, Dry skin, Hypogonadism, Failure to thrive |
ORPHA:910 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Impulsivity, Fetal asci... |
OMIM:619503 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Partial agenesis of the corpus callosum, Disproportionate short stature, Dry skin, Severe postnat... |
OMIM:210710 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Dehydration |
ORPHA:230 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation, Failure to thrive |
ORPHA:79282 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Diabetes mellitus, Hyperextensible skin, Redundant skin |
ORPHA:536532 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Erythema, Redundant skin |
OMIM:259100 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Agenesis of corpus callosum, Pallor, Pulmonary edema |
ORPHA:137675 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Short stature, Dermal translucency |
OMIM:619115 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Redundant skin |
ORPHA:2953 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Failure to thrive |
OMIM:256500 |
| Cockayne Syndrome B |
|
Severe short stature, Small for gestational age, Postnatal growth retardation, Dry skin, Severe f... |
OMIM:133540 |
| Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Short stature |
ORPHA:2720 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Short stature, Small for gestational age, Polyhydramnios, Intrauterine growt... |
OMIM:301056 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
| Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
| Neonatal Marfan Syndrome |
|
Small for gestational age, Cutis laxa |
ORPHA:284979 |
| Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... |
OMIM:607364 |
| Uremic Pruritus |
|
Dry skin |
ORPHA:94059 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Soft skin, Oligohydramnios, Cutis laxa, Dermal translucency |
OMIM:614437 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Dry skin, Short stature |
ORPHA:508542 |
| Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Erythema, Dry skin |
OMIM:257980 |
| Stiff Skin Syndrome |
|
Type II diabetes mellitus, Short stature, Lack of skin elasticity |
ORPHA:2833 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Postnatal growth retardation, D... |
ORPHA:96191 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Large for gestational age, Precocious puberty, Self-injurious behavior, Hyperexten... |
ORPHA:261652 |
| Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
| Cockayne Syndrome A |
|
Short stature, Dry skin, Severe postnatal growth retardation, Thymic hormone decreased, Hypogonad... |
OMIM:216400 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Small for gestational age, Abnormal thalamus morphology, Short stature, Delayed puberty |
ORPHA:2959 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
| Hajdu-Cheney Syndrome |
|
Short stature, Dry skin, Skin ulcer, Delayed puberty, Failure to thrive |
ORPHA:955 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Short stature, Polyhydramnios, Hydrops fetalis, Cutis laxa |
OMIM:613610 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
| Neuroleptic Malignant Syndrome |
|
Agitation, Dehydration, Dysphagia |
ORPHA:94093 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Decreased body weight, Short stature, Oligohydramnios, Cutis laxa |
OMIM:617402 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Hyperextensible skin |
OMIM:617475 |
| Ablepharon Macrostomia Syndrome |
|
Growth delay, Excessive wrinkled skin, Dry skin, Redundant skin |
ORPHA:920 |
| Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Small for gestational age, Short stature, Increased serum testosterone level, ... |
OMIM:264090 |
| Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Xerostomia, Hypoplasia of t... |
ORPHA:1896 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation, Dry skin, Palpebral edema, Short stature |
OMIM:181270 |
| Wrinkly Skin Syndrome |
|
Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of hands and fing... |
ORPHA:2834 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Abnormal thalamus morphology |
ORPHA:300570 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Violent behavior, Dry skin, Large for gestational age |
OMIM:280000 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short stature, Attentio... |
OMIM:227646 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Weight loss |
ORPHA:98849 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Dry skin |
OMIM:612132 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
| Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hypothalamic hamartoma, Dysphagia |
OMIM:619775 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Joint swelling, Pallor, Dysphagia, Pleural effusion, Failure to thrive |
ORPHA:3260 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration, Disinhibition, Dysphagia |
OMIM:606159 |
| Aarskog-Scott Syndrome |
|
Hyperextensible skin, Short stature, Attention deficit hyperactivity disorder |
ORPHA:915 |
| Congenital Tracheomalacia |
|
Failure to thrive, Cutis laxa |
ORPHA:95430 |
| Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Small for gestational age, Cutis laxa, Growth delay, Dysphagia, Intrau... |
ORPHA:666 |
| Antisynthetase Syndrome |
|
Xerostomia, Lack of skin elasticity, Edema, Dysphagia |
ORPHA:81 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short stature |
OMIM:600901 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Short stature, Polyhydramnios, Large for gestational age, Postnatal growth r... |
ORPHA:96334 |
| Noonan Syndrome 1 |
|
Failure to thrive in infancy, Short stature, Lymphedema, Postnatal growth retardation, Hypogonadi... |
OMIM:163950 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:79085 |
| Fountain Syndrome |
|
Facial edema, Erythema, Hyperextensible skin, Short stature |
ORPHA:3219 |
| Kanzaki Disease |
|
Dry skin, Petechiae, Lymphedema |
OMIM:609242 |
| Fontaine Progeroid Syndrome |
|
Dermal translucency, Small for gestational age, Redundant skin, Short stature, Neonatal death, In... |
OMIM:612289 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Severe short stature, Hyperextensible skin |
ORPHA:1899 |
| Recombinant 8 Syndrome |
|
Redundant skin |
ORPHA:96167 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Dry skin, Scaling skin, Facial erythema |
ORPHA:1010 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short stature |
OMIM:227650 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Soft skin, Dry skin, Periorbital wrinkles |
OMIM:305100 |
| Menkes Disease |
|
Intrauterine growth retardation, Hyperextensible skin, Dry skin |
ORPHA:565 |
| Adult Syndrome |
|
Dry skin |
OMIM:103285 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Cerebral atrophy, Neurodegeneration, Dysphagia |
OMIM:610217 |
| Arterial Tortuosity Syndrome |
|
Hyperextensible skin, Redundant skin |
ORPHA:3342 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
| Cardiofaciocutaneous Syndrome 4 |
|
Hyperextensible skin, Short stature, Decreased response to growth hormone stimulation test, Polyh... |
OMIM:615280 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Lack of skin elasticity |
ORPHA:1366 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Agenesis of corpus callosum, Severe short stature, Hypogonadism, Redundant skin |
ORPHA:2658 |
| Atypical Werner Syndrome |
|
Failure to thrive, Diabetes mellitus, Short stature, Abnormal circulating leptin concentration, I... |
ORPHA:79474 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short stature, Intraute... |
OMIM:227645 |
| Gapo Syndrome |
|
Growth delay, Redundant skin |
OMIM:230740 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:435651 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
| Williams-Beuren Syndrome |
|
Diabetes mellitus, Failure to thrive in infancy, Short stature, Obesity, Cutis laxa, Early onset ... |
OMIM:194050 |
| Degcags Syndrome |
|
Small for gestational age, Polyhydramnios, Oral-pharyngeal dysphagia, Pallor, Choking episodes, I... |
OMIM:619488 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Macular edem... |
ORPHA:892 |
| Orofaciodigital Syndrome Type 1 |
|
Dry skin, Agenesis of corpus callosum |
ORPHA:2750 |
| Autosomal Dominant Hypocalcemia |
|
Dry skin |
ORPHA:428 |
| Marburg Hemorrhagic Fever |
|
Aggressive behavior, Dehydration, Petechiae, Anorexia |
ORPHA:99826 |
| Occipital Horn Syndrome |
|
Soft skin, Hyperextensible skin, Redundant skin, Growth delay |
OMIM:304150 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Polyhydramnios, Decreased serum leptin, Lateral ventricle dilatation |
OMIM:614098 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Dry skin, Hypothyroidism, Short stature |
ORPHA:51 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:606408 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Impulsivity, Growth delay, Dysphagia, Dry skin, Self-mutilation |
ORPHA:642 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Moderately short stature, Hyperextensible skin, Short stature |
OMIM:612350 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:435660 |
| Diastrophic Dysplasia |
|
Intrauterine growth retardation, Hyperextensible skin, Neonatal short-limb short stature |
ORPHA:628 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Soft skin, Hyperextensible skin |
OMIM:225320 |
| Alzahrani-Kuwahara Syndrome |
|
Dry skin, Short stature, Self-mutilation |
OMIM:619268 |
| Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Dry skin |
OMIM:263650 |
| Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
| Acrofrontofacionasal Dysostosis 2 |
|
Redundant neck skin, Short stature |
OMIM:239710 |
| Adrenoleukodystrophy |
|
Neurodegeneration, Attention deficit hyperactivity disorder |
OMIM:300100 |
| Tay-Sachs Disease |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Global brain atrophy, Dysphagia |
ORPHA:845 |
| Coffin-Lowry Syndrome |
|
Decreased body weight, Short stature, Cutis laxa |
OMIM:303600 |
| Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
| Pelviscapular Dysplasia |
|
Redundant neck skin, Short stature |
ORPHA:93333 |
| Cerebral Visual Impairment |
|
Central nervous system degeneration, Neurodegeneration, Attention deficit hyperactivity disorder |
ORPHA:447788 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Edema, Pleural empyema, Pallor, Generalized edema |
ORPHA:544482 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin |
OMIM:618652 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Acromesomelic Dysplasia 1 |
|
Disproportionate short stature, Redundant skin on fingers |
OMIM:602875 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Spondylo-Ocular Syndrome |
|
Hyperextensible skin, Short stature, Disproportionate short-trunk short stature |
ORPHA:85194 |
| Leigh Syndrome |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Growth delay, Dysphagia, Intrauterine... |
ORPHA:506 |
| Chromosome 18P Deletion Syndrome |
|
Redundant neck skin, Small for gestational age, Short stature |
OMIM:146390 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
| Plague |
|
Edema, Dry skin, Skin ulcer, Anorexia |
ORPHA:707 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Failure to thrive, Edema, Dehydration |
ORPHA:79404 |
| Diamond-Blackfan Anemia |
|
Small for gestational age, Nonimmune hydrops fetalis, Short stature, Growth delay, Pallor |
ORPHA:124 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mild postnatal growth retardation, Redundant skin in infancy, Cutis laxa, Growth delay, Dry skin |
OMIM:150230 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Anorexia |
ORPHA:79139 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Failure to thrive, Redundant neck skin |
ORPHA:3309 |
| Primary Sjögren Syndrome |
|
Xerostomia, Thyroiditis, Skin ulcer, Dry skin, Purpura |
ORPHA:289390 |
| C Syndrome |
|
Short stature, Failure to thrive in infancy, Redundant skin, Polyhydramnios |
ORPHA:1308 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume |
ORPHA:370959 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Short stature, Growth delay, Hydromyelia, Scaling skin, Neonatal death, Dry sk... |
OMIM:308205 |
| Viss Syndrome |
|
Short stature, Polyhydramnios, Cutis laxa, Hyperextensible skin, Dysphagia, Failure to thrive, Hy... |
OMIM:619472 |
| Primary Fanconi Renotubular Syndrome |
|
Growth delay, Dehydration, Weight loss |
ORPHA:3337 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Hyperextensible skin, Adrenal hypoplasia |
ORPHA:230839 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity, Aggressive behavior |
ORPHA:83597 |
| Tooth Agenesis, Selective, 4 |
|
Dry skin |
OMIM:150400 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Ascites |
OMIM:235255 |
| Tangier Disease |
|
Dry skin |
ORPHA:31150 |
| Blau Syndrome |
|
Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin |
ORPHA:90340 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin, Short stature, Rhizomelic leg shortening, Rhizomelic arm shortening, Colpoce... |
ORPHA:397715 |
| Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Redundant skin, Polyhydramnios, Large for gestational age, Adrenocorti... |
ORPHA:116 |
| Orofaciodigital Syndrome Type 6 |
|
Growth delay, Failure to thrive, Short stature, Hypothalamic hamartoma |
ORPHA:2754 |
| Pseudoxanthoma Elasticum |
|
Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin, Hypothyroidism, Striae di... |
ORPHA:758 |
| Wrinkly Skin Syndrome |
|
Short stature, Redundant skin, Neonatal wrinkled skin of hands and feet, Palmoplantar cutis laxa,... |
OMIM:278250 |
| Carpenter Syndrome 2 |
|
Obesity, Cutis laxa |
OMIM:614976 |
| Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin |
OMIM:200110 |
| Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Failure to thrive, Short stature, Pallor |
OMIM:105650 |
| Cystic Fibrosis |
|
Failure to thrive, Dehydration |
OMIM:219700 |
| Chand Syndrome |
|
Dry skin |
ORPHA:1401 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Cerebral atrophy, Aggressive behavior |
OMIM:618321 |
| Pallister-Hall Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Neo... |
OMIM:146510 |
| Mucopolysaccharidosis, Type Ii |
|
Mild short stature, Severe short stature, Neurodegeneration, Short stature |
OMIM:309900 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Failure to thrive, Redundant neck skin, Adrenal hypoplasia, Dysphagia |
OMIM:214100 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Short stature, Decreased thalamic volume |
ORPHA:168577 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
| Limb-Mammary Syndrome |
|
Dry skin |
ORPHA:69085 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Redundant neck skin, Polyhydramnios |
ORPHA:254528 |
| Williams Syndrome |
|
Hypogonadotropic hypogonadism, Redundant skin, Failure to thrive in infancy, Short stature, Preco... |
ORPHA:904 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Cerebral atrophy, Oral-pharyngeal dysphagia |
OMIM:616878 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Ascites, Redundant neck skin, Polyhydramnios |
ORPHA:1655 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Hyperextensible skin, Short stature |
ORPHA:1185 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Inappropriate laughter |
OMIM:618476 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Increased number of skin folds, Short stature, Edema |
ORPHA:2505 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperactivity, Short stature, Polyhydramnios, Large for gestational age, Hyperextensible skin, At... |
OMIM:607721 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Severe short stature, Hyperextensible skin |
ORPHA:1901 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Soft skin, Hyperextensible skin, Short stature |
OMIM:130000 |
| Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Mucopolysaccharidosis, Type Vii |
|
Postnatal growth retardation, Severe short stature, Neurodegeneration, Short stature |
OMIM:253220 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Soft skin, Hyperextensible skin, Palmoplantar cutis laxa |
OMIM:130080 |
| Orofaciodigital Syndrome Vi |
|
Failure to thrive, Short stature, Hypothalamic hamartoma |
OMIM:277170 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Disproportionate short stature, Rhizomelia, Redundant skin |
OMIM:250220 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin |
ORPHA:280365 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Phonic tics, Neurodegeneration, Dysphagia, Global brain atrophy, Cerebral degenera... |
OMIM:234200 |
| Gapo Syndrome |
|
Short stature, Palpebral edema, Growth delay, Hyperextensible skin, Hypogonadism |
ORPHA:2067 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Redundant neck skin, Agenesis of corpus callosum |
OMIM:217980 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Neurodegeneration, Impulsivity |
OMIM:614298 |
| Noonan Syndrome 10 |
|
Short stature, Increased nuchal translucency, Hyperextensible skin, Palmoplantar cutis laxa, Pleu... |
OMIM:616564 |
| Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short stature, Impulsivity, Precocious puberty, Growth delay, Excessive wrinkled skin, Hyperexten... |
OMIM:619950 |
| Zaki Syndrome |
|
Hyperextensible skin, Short stature |
OMIM:619648 |
| Noonan Syndrome 2 |
|
Short stature, Polyhydramnios, Increased nuchal translucency, Hyperextensible skin, Palmoplantar ... |
OMIM:605275 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Overwei... |
OMIM:619475 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus ... |
OMIM:608594 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Congenital hypothyroidism |
ORPHA:2519 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Small for gestational age |
OMIM:604314 |
| Exercise-Induced Malignant Hyperthermia |
|
Dry skin |
ORPHA:466650 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Redundant neck skin, Agenesis of corpus callosum |
OMIM:123790 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pallor |
ORPHA:667 |
| Loeys-Dietz Syndrome 4 |
|
Hyperextensible skin, Striae distensae |
OMIM:614816 |
| Papillorenal Syndrome |
|
Soft skin, Hyperextensible skin, Short stature, Edema |
OMIM:120330 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II... |
OMIM:269700 |
| Noonan Syndrome With Multiple Lentigines |
|
Short stature, Growth delay, Excessive wrinkled skin, Hyperextensible skin, Intrauterine growth r... |
ORPHA:500 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dermal translucency, Postnatal growth retardation, Hyperextensible skin, Soft, doughy skin, Oligo... |
ORPHA:536467 |
| Mend Syndrome |
|
Failure to thrive, Hyperactivity, Redundant neck skin, Short stature |
OMIM:300960 |
| Hurler Syndrome |
|
Neurodegeneration, Short stature |
OMIM:607014 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Short stature |
ORPHA:230851 |
| Norrie Disease |
|
Failure to thrive, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... |
ORPHA:649 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency |
OMIM:619329 |
| Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Lack of skin elasticity, Weight loss, Premature skin... |
ORPHA:740 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short stature, Dry skin, Growth delay, Intrauterine growth retardation, Failure to thrive |
ORPHA:99646 |
| Orofaciodigital Syndrome I |
|
Cerebral atrophy, Short stature, Hypothalamic hamartoma |
OMIM:311200 |
| Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... |
ORPHA:506358 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Short stature, Polyhydramnios, Pseudohypoparathyroidism, Obesity, Soft skin,... |
OMIM:617157 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Skin ulcer, Growth delay, Hyperextensible skin, Abnormal temper tantrums, Delayed puber... |
ORPHA:2072 |
| Nijmegen Breakage Syndrome |
|
Intrauterine growth retardation, Hyperactivity, Neurodegeneration, Short stature |
OMIM:251260 |
| Leprechaunism |
|
Postnatal growth retardation, Hyperinsulinemia, Central hypothyroidism, Hyperextensible skin, Inc... |
ORPHA:508 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Goodpasture Syndrome |
|
Pallor, Weight loss |
OMIM:233450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Soft skin, Excessive wrinkled skin, Hyperextensible skin, Palmoplantar cutis laxa |
OMIM:225400 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Agenesis of corpus callosum, Hyperextensible skin, Abnormal repetitive mannerisms, Short stature |
ORPHA:508498 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Soft skin, Hyperextensible skin |
OMIM:617821 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Short stature, Polyhydramnios, Postnatal growth retardation, Increased nucha... |
ORPHA:3472 |
| Chediak-Higashi Syndrome |
|
Neurodegeneration |
OMIM:214500 |
| Shprintzen-Goldberg Syndrome |
|
Failure to thrive, Hyperextensible skin |
ORPHA:2462 |
| Zttk Syndrome |
|
Short stature, Dysplastic corpus callosum, Growth delay, Hyperextensible skin, Intrauterine growt... |
OMIM:617140 |
| Pallister-Hall Syndrome |
|
Short stature, Large for gestational age, Adrenocorticotropic hormone deficiency, Gonadotropin de... |
ORPHA:672 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Brittle Cornea Syndrome |
|
Soft skin, Hyperextensible skin |
ORPHA:90354 |
| Vascular Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Short stature, Redundant skin, Dermal translucency |
ORPHA:286 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Intrauterine growth retardation, Redundant neck skin |
OMIM:618164 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hyperextensible skin |
ORPHA:1900 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration |
OMIM:146500 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Soft, doughy skin, Severe short stature, Hyperextensible skin, Decreased body weight |
OMIM:271640 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Hyperextensible skin |
ORPHA:555877 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hyperextensible skin |
OMIM:182212 |
| Frank-Ter Haar Syndrome |
|
Growth delay, Redundant neck skin |
OMIM:249420 |
| Costello Syndrome |
|
Failure to thrive, Redundant neck skin, Short stature, Polyhydramnios |
OMIM:218040 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Failure to thrive, Hyperextensible skin, Short stature |
OMIM:130070 |
| Kosaki Overgrowth Syndrome |
|
Hyperextensible skin |
OMIM:616592 |
| Down Syndrome |
|
Redundant neck skin, Hypothyroidism, Short stature |
OMIM:190685 |
| Classical Ehlers-Danlos Syndrome |
|
Joint swelling, Blepharochalasis, Hyperextensible skin, Soft, doughy skin, Ecchymosis, Striae dis... |
ORPHA:287 |
| Primrose Syndrome |
|
Restlessness, Short stature, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics,... |
OMIM:259050 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Short stature |
ORPHA:536545 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hyperextensible skin, Short stature |
ORPHA:1974 |
| Okamoto Syndrome |
|
Severe postnatal growth retardation, Redundant neck skin, Oligohydramnios |
ORPHA:2729 |
| Occipital Horn Syndrome |
|
Hyperextensible skin, Dysphagia |
ORPHA:198 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Ecchymosis, Hyperextensible skin |
OMIM:601776 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Hyd... |
OMIM:216340 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Ecchymosis, Hyperextensible skin, Short stature, Dermal translucency |
OMIM:130050 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Soft skin, Hyperextensible skin |
ORPHA:285 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hyperextensible skin, Xerostomia |
OMIM:149730 |
