Failure to thrive, and Nevus

Diseases related with Failure to thrive and Nevus

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

Top matches:

Medium match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

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

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Other less relevant matches:

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match CLN1 DISEASE

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION Is also known as rubinstein-taybi deletion syndrome|rsts deletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Nevus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Optic atrophy Intellectual disability Strabismus

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the cerebellum Neoplasm Broad forehead Everted lower lip vermilion Full cheeks Generalized hirsutism Melanocytic nevus Hypermelanotic macule Irritability Depressivity Scoliosis Downslanted palpebral fissures Postnatal growth retardation Wide mouth Ataxia Microcephaly Frontal bossing Convex nasal ridge High forehead Arnold-Chiari malformation Hypertelorism Sleep disturbance Flexion contracture Arthralgia Conductive hearing impairment Polysplenia Feeding difficulties in infancy Prominent nose Renal agenesis Craniofacial dysostosis Broad thumb Inflammatory abnormality of the eye Broad hallux Cloverleaf skull Hypoplastic left heart Choanal stenosis Low hanging columella Facial hypertrichosis Facial hemangioma Clinodactyly of the 5th finger Nevus sebaceous Abnormality of the hairline Anemia Fatigue Vomiting Diarrhea Alopecia Osteoporosis Abdominal pain Weight loss Elevated hepatic transaminase Anxiety Abnormality of the kidney Recurrent infections Obesity Motor deterioration Progressive visual loss Postnatal microcephaly Hallucinations Progressive microcephaly Macular degeneration Global brain atrophy Muscle fibrillation Peripheral visual field loss Schizophrenia Loss of speech Progressive encephalopathy Visual hallucinations Undetectable electroretinogram Short uvula Malabsorption Membranous nephropathy Decreased light- and dark-adapted electroretinogram amplitude Psychomotor deterioration Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Micrognathia Abnormal facial shape High palate Myopia Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Autoimmunity Delayed puberty Proptosis Visual impairment Recurrent aphthous stomatitis Prolonged prothrombin time Abnormality of the abdominal wall Abnormal form of the vertebral bodies Choanal atresia Folate deficiency Vitamin D deficiency Vitamin K deficiency Vitamin B12 deficiency Cleft palate Epidermal acanthosis Ptosis Feeding difficulties Short metacarpal Prolonged partial thromboplastin time Brachydactyly Dental malocclusion Respiratory insufficiency Renal insufficiency Malar flattening Migraine Midface retrusion Posteriorly rotated ears Brachycephaly Hypoplasia of the maxilla Hypopigmentation of the skin Dry skin Craniosynostosis Stomatitis Chronic fatigue Infertility Type I diabetes mellitus Polyneuropathy Abdominal distention Turricephaly Proportionate short stature Lymphoma Cerebral calcification Eczema Inflammatory abnormality of the skin Hypoplasia of dental enamel Chronic diarrhea Glomerulonephritis Laryngomalacia Hypocalcemia Spontaneous abortion Thrombocytosis Brain atrophy Rickets Abnormality of the coagulation cascade Malnutrition Increased intracranial pressure Steatorrhea Celiac disease Abnormality of the metacarpal bones Abnormal palate morphology Acanthosis nigricans Macrocytic anemia IgA deficiency Thyroiditis Iron deficiency anemia Abnormal intestine morphology Spasticity Parkinsonism Calvarial skull defect Papule Pruritus Abnormality of skin pigmentation Broad nasal tip Round face Open mouth Subcutaneous nodule Neoplasm of the skin Hypopigmented skin patches Melanoma Sarcoma Deep philtrum Narrow nasal bridge Periorbital fullness Long philtrum Rhabdomyosarcoma Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Growth delay Nystagmus Hypoplasia of the corpus callosum Cardiomyopathy Pectus excavatum Prominent forehead Short nose Hyperhidrosis Hemangioma Hypertension Skeletal muscle atrophy Abnormality of the skeletal system Edema Dilatation Skeletal dysplasia Arthritis Joint stiffness Abnormality of the foot Lymphedema Bone pain Increased bone mineral density Cranial nerve paralysis Growth abnormality Ectopic ossification in muscle tissue Dermal atrophy Hyperostosis Scleroderma Joint swelling Abnormality of the vasculature Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Prominent superficial veins Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Osteopoikilosis Abnormal heart morphology Hyperkeratosis Neurodegeneration Visceral angiomatosis Deeply set eye Finger syndactyly Toe syndactyly Facial asymmetry Joint hyperflexibility Polymicrogyria Hand polydactyly Cutis marmorata Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Abnormality of nervous system morphology Abnormality of cardiovascular system morphology Asymmetric growth Pain Blindness Cerebellar atrophy Cerebral atrophy Abnormality of metabolism/homeostasis Encephalopathy Visual loss Rod-cone dystrophy Dementia Myoclonus EEG abnormality Mental deterioration Arrhythmia Ventriculomegaly Hypertrophic cardiomyopathy Short distal phalanx of finger Pulmonic stenosis Reduced bone mineral density Curly hair Heat intolerance Hyperkeratosis pilaris Abnormality of the palpebral fissures Epicanthus Intrauterine growth retardation Mandibular prognathia Umbilical hernia Low-set, posteriorly rotated ears Sparse hair Thick eyebrow Wide anterior fontanel Macrocephaly Abnormality of the hair Abnormality of the nail Abnormal dermatoglyphics Cutis laxa Reduced number of teeth Redundant skin Brittle hair Reduced subcutaneous adipose tissue Lipoatrophy Prematurely aged appearance Decreased skull ossification Shagreen patch Long eyelashes in irregular rows Depressed nasal bridge Bipolar affective disorder


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