Coarse facial features

• Symptoms (9)

  • Brittle hair
  • Short stature
  • Mental deterioration
  • Joint stiffness
  • Separated sutures
  • Separated sutures
  • Developmental delay
  • Overall swelling
  • Enlarged tongue
  • Mental retardation
  • more...

• Glycosaminoglycans (9)

  • Dermatan sulfate
  • Heparan sulfate
  • Mucopolysaccharides
  • Chondroitin sulfate
  • Heparin
  • Heparin
  • Heparinoid
  • Hyaluronan
  • Keratan sulfate
  • Restylane
  • more...

• Genodermatoses

  • Touraine-S- olente-Gole syndrome
  • Cutis verticis gyrata
  • Costello syndrome

• Hydrolases (8)

  • Iduronate sulfatase
  • Beta galactosidase
  • Alpha-L iduronidase
  • Alpha-L-fucosidase
  • N-acetylgl- ucosaminidase
  • N-acetylgl- ucosaminidase
  • Alpha fucosidase
  • N-acetylgl- ucosamine-6-sulfatase
  • Aspartylgl- ucosaminidase
  • more...

• EC numbers (EC 3)

  • Iduronate sulfatase
  • Alpha-L iduronidase
  • Alpha-L-fucosidase
  • N-acetylgl- ucosaminidase
  • Alpha fucosidase
  • N-acetylgl- ucosamine-6-sulfatase
  • Aspartylgl- ucosaminidase

• Hydrolase

  • Iduronate sulfatase
  • Alpha-L iduronidase
  • Alpha-L-fucosidase
  • N-acetylgl- ucosaminidase
  • Alpha fucosidase
  • N-acetylgl- ucosamine-6-sulfatase
  • Aspartylgl- ucosaminidase

• Skin conditions resulting from errors in metabolism

  • Hurler syndrome
  • Alpha-neuraminidase deficiency
  • Mucopolysa- ccharidosis, type II
  • Galactosam- ine-6-sulfatase deficiency
  • Fucosidosis
  • Angiokeratoma Corporis Diffusum
  • Myxedema

• Autosomal recessive disorders (11)

  • Sanfilippo syndrome
  • Mucolipidosis
  • Aspartylgl- ucosaminuria
  • Lipid storage disease
  • Salla disease
  • Salla disease
  • Sly syndrome
  • MPS II
  • Alpha-mannosidosis
  • Hurler syndrome
  • Galactosam- ine-6-sulfatase deficiency
  • Fucosidosis
  • more...

• Genetic disorders (19)

  • Pseudo-Hurler polydystrophy
  • Coffin-Siris syndrome
  • Occipital horn syndrome
  • Winchester syndrome
  • Genetic carrier
  • Genetic carrier
  • Genetic disorder
  • Hurler syndrome
  • Mucopolysa- ccharidosis, type II
  • Sanfilippo syndrome
  • Mucolipidosis
  • Galactosam- ine-6-sulfatase deficiency
  • Fucosidosis
  • Angiokeratoma Corporis Diffusum
  • Aspartylgl- ucosaminuria
  • Lipid storage disease
  • Salla disease
  • Sly syndrome
  • MPS II
  • Costello syndrome
  • more...

• Hepatology

  • Hepatosplenomegaly
  • Hepatomegaly
  • Hurler syndrome

• Endocrine-related cutaneous conditions (29)

  • Acromegaly
  • Cretinism
  • Hyperthyroidism
  • Hypopituitarism
  • Hypothyroidism
  • Hypothyroidism
  • ANOTHER syndrome
  • Acanthosis nigricans
  • Acanthosis nigricans associated with malignancy
  • Acanthosis nigricans associated with obesity, insulin-resistant states, and endocrinopathy
  • Acral acanthosis nigricans
  • Acral dry gangrene
  • Addison's disease
  • Adrenocortical carcinoma
  • Androgen-dependent syndromes
  • Congenital adrenal hyperplasia
  • Cushing's syndrome
  • Familial acanthosis nigricans
  • Growth hormone deficiency
  • HAIR-AN syndrome
  • Hyperparathyroidism
  • Hypoparathyroidism
  • Leydig cell tumour
  • Multiple endocrine neoplasia type 1
  • Multiple endocrine neoplasia type 2b
  • Myxedema
  • Polycystic ovary syndrome
  • SAHA syndrome
  • Sertoli cell tumour
  • Sertoli-Leydig cell tumour
  • more...

• Neuroendocrinology (50)

  • Gigantism
  • Hyperprolactinemia
  • Pituitary gland
  • Pituitary tumors
  • Prolactinoma
  • Prolactinoma
  • Acromegaly
  • Allostasis
  • Allostatic load
  • Arcuate nucleus
  • Autoimmune hypophysitis
  • Berta Scharrer
  • Circumventricular organs
  • Corticotropin-like intermediate peptide
  • Cortisol awakening response
  • Empty sella syndrome
  • Growth hormone releasing hormone
  • Growth hormone secretagogues
  • Hashimoto's encephalopathy
  • Hormones of the brain
  • Hormones of the hypothalamus
  • Hormones of the pineal gland
  • Hypothalam- ic-pituitary-adrenal axis
  • Hypothalamus
  • Magnocellular neurosecretory cell
  • Median eminence
  • Neurobiological brain disorder
  • Neuroendocrine
  • Neuroendocrine cells
  • Neuropeptides
  • Neurosteroids
  • Organum vasculosum of lamina terminalis
  • Paraventricular nucleus of hypothalamus
  • Pineal gland cyst
  • Pinealoblastoma
  • Pineocytoma
  • Pituitary hormones
  • Posterior pituitary
  • Proopiomelanocortin
  • Psychoneur- oendocrinology
  • Rathke's cleft cyst
  • Releasing hormone
  • Schizoaffective disorder
  • Sexually dimorphic nucleus
  • Sheehan's syndrome
  • Somatostatin
  • Subfornical organ
  • Supraoptic nucleus
  • Testosterone
  • Vasopressin
  • Ventromedial nucleus
  • more...

• Thyroid disease (29)

  • Congenital hypothyroidism
  • Exophthalmos
  • Myxedema coma
  • Anaplastic thyroid cancer
  • Antithyroid drugs
  • Antithyroid drugs
  • De Quervain's thyroiditis
  • Deaths from thyroid cancer
  • Follicular thyroid cancer
  • Goitrogen
  • Graves' disease
  • Graves' ophthalmopathy
  • Hashimoto's thyroiditis
  • Hashitoxicosis
  • Hyperthyroidism
  • Hypothyroidism
  • Medullary thyroid cancer
  • Myxedematous psychosis
  • Papillary thyroid cancer
  • Sign of Hertoghe
  • Solitary thyroid nodule
  • Subacute lymphocytic thyroiditis
  • Thyroid dyshormonogenesis
  • Thyroid hormone resistance
  • Thyroid hormones
  • Thyroid neoplasm
  • Thyroid nodule
  • Thyroidectomy
  • Thyroidologist
  • Toxic nodular goitre
  • more...

• Inborn errors of metabolism

  • Lysosomal storage diseases
  • Lysosomal storage disease
  • Metabolic diseases
  • Fucosidosis
  • Aspartylgl- ucosaminuria
  • Lipid storage disease
  • Sly syndrome

• Hormones of the hypothalamus-pituitary-thyroid axis

  • Thyroid hormone
  • Thyroxine
  • 3'-Monoiod- othyronine
  • 3,3'-Diiod- othyronine
  • Thyroid-stimulating hormone
  • Triiodothyronine

• Human body

  • Periostosis
  • Thyroid gland
  • Lanugo
  • Pituitary gland

• Lysosomal storage diseases (40)

  • Glycoproteinosis
  • I-cell disease
  • Alpha-mannosidosis
  • Alpha-neuraminidase deficiency
  • Angiokeratoma Corporis Diffusum
  • Angiokeratoma Corporis Diffusum
  • Aspartylgl- ucosaminuria
  • Batten disease
  • Canavan disease
  • Cholesteryl ester storage disease
  • Cystinosis
  • Farber disease
  • GM1 gangliosidoses
  • GM2 gangliosidoses
  • Galactosam- ine-6-sulfatase deficiency
  • Galactosialidosis
  • Gangliosidosis
  • Gaucher's disease
  • Glycogen storage disease type II
  • Hurler syndrome
  • Krabbe disease
  • Lipid storage disease
  • Lysosomal storage disease
  • MPS II
  • Metachromatic leukodystrophy
  • Mucolipidosis
  • Mucolipidosis type IV
  • Mucopolysa- ccharidosis, type II
  • Multiple sulfatase deficiency
  • Neuronal ceroid lipofuscinosis
  • Niemann-Pick disease, type C
  • Niemann–Pick disease
  • Pseudo-Hurler polydystrophy
  • Pycnodysostosis
  • Salla disease
  • Sandhoff disease
  • Sanfilippo syndrome
  • Schindler disease
  • Sly syndrome
  • Tay-Sachs disease
  • Wolman disease
  • more...

• Diseases and disorders (44)

  • Lipomucopo- lysaccharidosis
  • Skeletal dysplasia
  • Umbilical hernia
  • Connective tissue disorder
  • Maroteaux-Lamy syndrome
  • Maroteaux-Lamy syndrome
  • Dysostosis
  • Curvature of the spine
  • Fryns syndrome
  • Hypoplasia
  • Thyroiditis
  • Touraine-S- olente-Gole syndrome
  • Hurler syndrome
  • Alpha-neuraminidase deficiency
  • Mucopolysa- ccharidosis, type II
  • Sanfilippo syndrome
  • Mucolipidosis
  • Cretinism
  • Galactosam- ine-6-sulfatase deficiency
  • Cutis verticis gyrata
  • Gigantism
  • Fucosidosis
  • Joint stiffness
  • Lysosomal storage diseases
  • Pituitary tumors
  • Angiokeratoma Corporis Diffusum
  • Aspartylgl- ucosaminuria
  • Myxedema
  • Lipid storage disease
  • Salla disease
  • Glycoproteinosis
  • Sly syndrome
  • Mental retardation
  • Hypothyroidism
  • Occipital horn syndrome
  • Winchester syndrome
  • MPS II
  • Myoclonus
  • Metabolic diseases
  • Hypopituitarism
  • Macroglossia
  • Hyperprolactinemia
  • Hyperthyroidism
  • Costello syndrome
  • Congenital hypothyroidism
  • more...

• See also (20)

  • Facial features
  • Primary hypertrophic osteoarthropathy
  • Enzyme
  • Enzyme replacement therapy
  • Galactosidase
  • Galactosidase
  • Sulfatase
  • Angiokeratomas
  • Lysosomes
  • Autosomal recessive
  • Contractures
  • Neuraminidase
  • Heparan N-sulfatase
  • Genetic counseling
  • IVB
  • Myoclonus
  • Tweezing
  • Idursulfase
  • Structure from motion
  • GLB1
  • Object tracking
  • more...

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