Failure to thrive, and Subcutaneous nodule

Diseases related with Failure to thrive and Subcutaneous nodule

In the following list you will find some of the most common rare diseases related to Failure to thrive and Subcutaneous nodule that can help you solving undiagnosed cases.

Top matches:

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Other less relevant matches:

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

High match FARBER DISEASE

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Subcutaneous nodule

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Papule Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Subcutaneous nodule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Hearing impairment Kyphosis Scoliosis Flexion contracture Hydrocephalus Chronic diarrhea Joint stiffness Short stature Diarrhea Hamartoma Coarse facial features Macrocephaly Osteoporosis Atrial septal defect Cataract Skin ulcer

Rare Symptoms - Less than 30% cases

Subcutaneous lipoma High palate Abnormality of the skeletal system Generalized hypotonia Joint swelling Abnormality of vision Corneal opacity Respiratory insufficiency Juvenile rheumatoid arthritis Anemia Camptodactyly of finger Immunodeficiency Brachydactyly Muscular hypotonia Rheumatoid arthritis Motor delay Bone cyst Myopathy Alopecia Broad thumb Cranial nerve paralysis Abnormality of the kidney Hypothyroidism Agenesis of corpus callosum Microphthalmia Cryptorchidism Abnormality of the uterus Epibulbar dermoid Hypertelorism Delayed speech and language development Abnormal vertebral morphology Hypotrichosis Clinodactyly of the 5th finger Pectus excavatum Intellectual disability, mild Low-set ears Hemangioma Colonic diverticula Multiple lipomas Lipoma Skin tags Goiter Cafe-au-lait spot Hemiparesis Astrocytoma Carcinoma Glaucoma Constipation Arthritis Iris coloboma Hypopigmented skin patches Respiratory distress Neoplasm of the skin Abnormality of the skull Osteolysis Melanoma Sarcoma Melanocytic nevus Nevus Abnormality of the gastrointestinal tract Thickened skin Abnormality of the face Osteopenia Recurrent infections Gingival overgrowth Edema Skeletal muscle atrophy Fever Retinopathy Coarctation of aorta Cerebral calcification Dandy-Walker malformation Tetraplegia Neurological speech impairment Mucosal telangiectasiae Varicocele Follicular thyroid carcinoma Pulmonary arterial hypertension Coloboma Scarring Paralysis Hydronephrosis Rigidity Thyroid adenoma Abnormal eyelid morphology Intellectual disability, profound Aortic valve stenosis Endometrial carcinoma Dysphasia Nevus flammeus Hypoplasia of the iris Aplasia cutis congenita Abnormal eyelash morphology Arachnoid cyst Absent septum pellucidum Colorectal polyposis Cortical dysplasia Progressive macrocephaly Sclerocornea Aphasia Lipodystrophy Capillary hemangioma Hemiplegia Mutism Pseudopapilledema Sacral dimple Muscle stiffness Arteriovenous malformation Cerebellar hypoplasia Skeletal dysplasia Dysplastic gangliocytoma of the cerebellum Anteriorly placed anus Bowel incontinence Ectopic kidney Preaxial hand polydactyly Cutis marmorata telangiectatica congenita Enlarged cerebellum Bifid scrotum Trichilemmoma Cupped ear Triphalangeal thumb Chorioretinal coloboma Conjunctival hamartoma External ear malformation Overfolded helix Ductal carcinoma in situ Arnold-Chiari malformation Merkel cell skin cancer Spina bifida occulta Spina bifida Preauricular skin tag Multiple trichilemmomata Renal hypoplasia Abnormality of the ribs Hypoplasia of penis Ulnar deviation of finger Multiple renal cysts Cerebral cortical atrophy Rectoperineal fistula Eyelid coloboma Cerebral atrophy Behavioral abnormality Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Acrokeratosis Transitional cell carcinoma of the bladder Spasticity Aplasia/Hypoplasia of the 3rd toe Abnormality of the tragus Broad hallux phalanx Urethral valve Bifid uterus Absent toe Neoplasm of the thyroid gland Crossed fused renal ectopia Partial duplication of thumb phalanx Abnormal pulmonary valve morphology Toe clinodactyly Abnormal vagina morphology Fibroadenoma of the breast Rectovaginal fistula Lower limb asymmetry Intestinal polyp Craniofacial hyperostosis Dysostosis multiplex Cavernous hemangioma Incoordination Palmoplantar hyperkeratosis Breast carcinoma Increased intracranial pressure Drooling Lymphopenia Gynecomastia Cellular immunodeficiency Exotropia Long penis Telangiectasia Intracranial hemorrhage Enlarged polycystic ovaries Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Dysdiadochokinesis Hand polydactyly Nausea and vomiting Hodgkin lymphoma Hydrocele testis Meningioma Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Furrowed tongue Hashimoto thyroiditis Renal cell carcinoma Thyroiditis Cutis marmorata Ovarian neoplasm Ovarian cyst Hyperthyroidism Acute myeloid leukemia Intestinal polyposis Multiple cafe-au-lait spots Cellulitis Cystic hygroma Abnormality of the thyroid gland Macule Joint hypermobility Leukemia Ectopia pupillae Glioma Pelvic kidney Chorioretinitis Hemiatrophy Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Interrupted aortic arch Neoplasm of the skeletal system Porencephalic cyst Adenoma sebaceum Abnormality of the penis Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Angioid streaks of the fundus Ovarian carcinoma Xanthomatosis Hemihypertrophy Echolalia Decreased proportion of CD4-positive T cells Neurodevelopmental abnormality Intellectual disability, moderate Downslanted palpebral fissures Proximal muscle weakness Narrow mouth Autism Dilatation Headache Papilloma Frontal bossing Hamartomatous polyposis Fibroma Tremor Generalized hyperkeratosis Odontoma Myopia Cognitive impairment Tetralogy of Fallot Micrognathia Ataxia Lipomas of the central neryous system Neoplasm of the central nervous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Muscle weakness Short 1st metacarpal Vesicoureteral reflux Tendonitis Recurrent fractures Short palm Micromelia Malabsorption Severe short stature Short neck Feeding difficulties Growth delay Nongranulomatous uveitis Intermittent generalized erythematous papular rash Panuveitis Hyperpigmentation of the skin Large vessel vasculitis Iritis Iridocyclitis Posterior uveitis Anterior uveitis Band keratopathy Granulomatosis Flexion contracture of toe Abducens palsy Cystoid macular edema Lymphedema Recurrent bacterial infections Macular edema Recurrent respiratory infections Hoarse voice Hydrops fetalis Decreased liver function Ascites Nephropathy Irritability Abnormality of the eye Hepatosplenomegaly Jaundice Arthralgia Splenomegaly Polycystic ovaries Hepatomegaly Nystagmus Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Osteomalacia Abnormality of the musculature Telangiectasia of the skin Steatorrhea Abnormality of dental morphology Urticaria Increased susceptibility to fractures Synovitis Abnormal cranial nerve morphology Laryngomalacia Deep philtrum Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Narrow nasal bridge Hypermelanotic macule Generalized hirsutism Nevus spillus Open mouth Round face Full cheeks Broad nasal tip Everted lower lip vermilion Abnormality of skin pigmentation Pruritus Broad forehead Prominent forehead Long philtrum Short nose Congenital giant melanocytic nevus Abnormality of the hair Uveitis Camptodactyly Optic neuropathy Abnormal joint morphology Abnormality of the ear Increased antibody level in blood Hypercalcemia Vasculitis Inflammatory abnormality of the skin Eczema Skin rash Autoimmunity Blindness Cardiac arrest Peripheral neuropathy Hypertension Visual impairment Progressive flexion contractures Intractable diarrhea Abnormal diaphysis morphology Gingival fibromatosis Severe failure to thrive Aplasia/Hypoplasia of the skin Growth abnormality Elbow flexion contracture Spontaneous abortion Decreased muscle mass Anal atresia Spinal rigidity Overbite Stiff neck Broad femoral neck Short hallux Myositis Broad neck Exostoses Ankylosis Alopecia of scalp Basal ganglia calcification Hallux valgus Soft tissue sarcoma Metaphyseal widening Back pain Widely spaced teeth Finger clinodactyly Aspiration Short thumb Myocardial infarction Limitation of joint mobility Respiratory tract infection Conductive hearing impairment Difficulty walking Low-grade fever Synostosis of joints Pneumonia Hypospadias Facial asymmetry Abnormality of the foot Delayed puberty Toe syndactyly Microtia Abnormal cardiac septum morphology Blepharophimosis Wide mouth Pes planus Patent ductus arteriosus Abnormality of cardiovascular system morphology Osteochondroma Renal insufficiency Strabismus Aplasia/Hypoplasia of the phalanges of the hallux Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Respiratory failure Clinodactyly Pulmonary fibrosis Proptosis Aganglionic megacolon Thick lower lip vermilion Abnormality of the skin Polyneuropathy High, narrow palate Thick vermilion border Thick eyebrow Hyperlordosis Joint laxity Photophobia Pes cavus Acne Visual loss Ptosis Abnormal facial shape Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Psychomotor deterioration Histiocytosis Nonimmune hydrops fetalis Weak cry Failure to thrive in infancy Disproportionate tall stature Congestive heart failure Nodular goiter Sensorineural hearing impairment Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Inguinal freckling Elevated urinary epinephrine Subcutaneous neurofibromas Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Elevated calcitonin Neurofibromas Schizencephaly Ganglioneuroma Medullary thyroid carcinoma Lisch nodules Parathyroid hyperplasia Pheochromocytoma Thyroid carcinoma Achalasia Neoplasm of the endocrine system Flushing Freckling Lobular carcinoma in situ


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