Failure to thrive, and Cutaneous photosensitivity

Diseases related with Failure to thrive and Cutaneous photosensitivity

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

Top matches:

COCKAYNE SYNDROME TYPE 3 Is also known as cockayne syndrome type iii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 3

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Other less relevant matches:

High match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Cutaneous photosensitivity

Symptoms // Phenotype % cases
Cryptorchidism Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Strabismus Growth delay Nystagmus Sensorineural hearing impairment Intrauterine growth retardation Spasticity Intellectual disability, severe Severe short stature Micrognathia Kyphosis Muscular hypotonia Abnormal facial shape Neoplasm Generalized hypotonia Micropenis Hypertension Abnormality of the dentition Optic atrophy Syndactyly Hypermetropia Dry skin Osteoporosis Scoliosis Carious teeth Severe photosensitivity Depressed nasal bridge Epicanthus Abnormality of the pinna Talipes equinovarus Opacification of the corneal stroma Intellectual disability, mild Hypogonadism Abnormality of skin pigmentation Atypical scarring of skin Progeroid facial appearance Ataxia Fever Short nose Peripheral demyelination Hypoplastic pelvis Microphthalmia Tremor Ventriculomegaly Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Hyporeflexia Poor suck Scrotal hypoplasia Decreased fetal movement Cognitive impairment Oligohydramnios Narrow forehead High palate Hypopigmentation of the skin Aortic valve stenosis Photophobia Sleep disturbance Attention deficit hyperactivity disorder Neoplasm of the skin Dermal atrophy Hypoglycemia Precocious puberty Congenital diaphragmatic hernia Thin skin Abnormality of cardiovascular system morphology Hypertelorism Cleft palate Low-set ears Motor delay Wide nasal bridge Hypopigmentation of hair Short neck Alopecia Hepatomegaly Prominent forehead Narrow mouth Proptosis Osteopenia Skeletal dysplasia Abnormality of the nervous system Arachnodactyly Adrenal insufficiency Autism Hyperactivity Splenomegaly Loss of facial adipose tissue Feeding difficulties Chromosome breakage Dry hair Hypoplasia of teeth Abnormal auditory evoked potentials Delayed eruption of primary teeth Decreased lacrimation Normal pressure hydrocephalus Abnormality of visual evoked potentials Increased cellular sensitivity to UV light Slender nose Peripheral dysmyelination Square pelvis bone Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter Hydrocephalus Severe failure to thrive Basal ganglia calcification Large hands Proteinuria Upslanted palpebral fissure Renal insufficiency Cerebral atrophy Behavioral abnormality Arrhythmia Vomiting Mandibular prognathia Edema Thickened calvaria Sparse hair Polyneuropathy Limitation of joint mobility Dental malocclusion Pigmentary retinopathy Decreased nerve conduction velocity Anhidrosis Reduced subcutaneous adipose tissue Hypoplastic iliac wing Muscle weakness Myeloid leukemia Delayed skeletal maturation Insulin resistance Elbow flexion contracture Coxa valga Knee flexion contracture Anemia Diarrhea Recurrent infections Recurrent respiratory infections Cerebral calcification Diabetes mellitus Polydactyly Postnatal growth retardation Erythema Finger syndactyly Leukemia Dolichocephaly Intellectual disability, profound Wide intermamillary distance Specific learning disability Bicuspid aortic valve Hypospadias Posteriorly rotated ears Macrotia Retrognathia Low-set, posteriorly rotated ears Toe syndactyly Polymicrogyria Optic nerve hypoplasia Prominent nose Bilateral cryptorchidism Long philtrum Cerebellar hypoplasia Kyphoscoliosis Deeply set eye Prominent nasal bridge Congenital cataract Infertility Hypertonia Type II diabetes mellitus Telangiectasia Hypopigmented skin patches Reduced number of teeth Squamous cell carcinoma Telangiectasia of the skin Triangular mouth Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Erysipelas Disseminated intravascular coagulation Poor gross motor coordination Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Almond-shaped palpebral fissure Acromicria Acrocyanosis Hydronephrosis Postaxial polydactyly Pulmonary hypoplasia Micromelia Hip dislocation Wide mouth Autistic behavior Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Aggressive behavior Gastroesophageal reflux Ptosis Polyhydramnios Glaucoma Constipation Abnormal heart morphology Patent ductus arteriosus Atrial septal defect Anteverted nares Ventricular septal defect Downslanted palpebral fissures Brachydactyly Hypoplasia of the fovea Overweight Oligomenorrhea Hypoplasia of the zygomatic bone Acute leukemia Sleep apnea Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Bradycardia Clumsiness Primary amenorrhea Psychosis Irritability IgG deficiency Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Febrile seizures Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Pulmonary fibrosis Infantile muscular hypotonia Nasal speech Renal cyst External genital hypoplasia Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Visual impairment Pulmonary embolism Striae distensae Impaired pain sensation Narrow nasal bridge Polyphagia Truncal obesity Failure to thrive in infancy Decreased muscle mass IgA deficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Emotional lability Radial deviation of finger Hyperinsulinemia Hodgkin lymphoma Iris coloboma Premature birth Tapered finger Microglossia Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Tracheal stenosis Sclerocornea Male pseudohermaphroditism Abnormal renal morphology Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Abnormal eyelash morphology Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Aplasia/Hypoplasia of the radius Ulnar deviation of finger Increased number of teeth Gastrointestinal dysmotility Aplasia/Hypoplasia affecting the eye Abnormality of digit Increased serum testosterone level Abnormality of limbs Facial capillary hemangioma Opsoclonus Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Abnormality of the gallbladder Hypoplasia of the frontal lobes Periventricular gray matter heterotopia Talipes calcaneovalgus Hip subluxation Abnormal localization of kidney Median cleft palate Mesomelic short stature Broad alveolar ridges Gastroschisis Increased nuchal translucency Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Biparietal narrowing Atrioventricular canal defect Intestinal malrotation Recurrent otitis media Short thumb Gingival overgrowth Rhizomelia Amblyopia Dental crowding Aganglionic megacolon Abnormality of the genital system Abnormal form of the vertebral bodies Split hand Choanal atresia Renal hypoplasia Multicystic kidney dysplasia Abnormality of the ribs Coarctation of aorta Hypoplasia of penis Ambiguous genitalia Eczema Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Renal agenesis Webbed neck Short toe Hyperbilirubinemia Mesomelia Clitoral hypertrophy Hyperkalemia 2-3 toe syndactyly Overlapping toe Metatarsus adductus Cutis marmorata Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Bifid scrotum Unilateral renal agenesis Hammertoe Proximal placement of thumb Abnormality of dental enamel Self-injurious behavior Hyponatremia Pyloric stenosis Abnormality of the urinary system Abnormality of the metacarpal bones Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Cerebral visual impairment Downturned corners of mouth Short foot Testicular torsion Protruding ear Peripheral neuropathy Pectus excavatum Skin rash Cafe-au-lait spot Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Slender toe Fatigue Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Absent earlobe Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Hernia Sinusitis Poor wound healing Thickened skin Clinodactyly of the 5th finger Melanoma Reduced tendon reflexes Pneumonia Intellectual disability, progressive Narrow face Conjunctivitis Aminoaciduria Bone marrow hypocellularity Abnormal vertebral morphology Choreoathetosis Midface retrusion Abnormality of extrapyramidal motor function Decreased testicular size Developmental regression Mental deterioration Carcinoma EEG abnormality Hyperhidrosis Arthralgia Hyperkeratosis Cerebral cortical atrophy Long toe Small face Ectropion Abnormality of the skin Blue sclerae Lymphoma Nevus Bifid uvula Triangular face Single transverse palmar crease Bruising susceptibility Flat face Joint hypermobility Decreased antibody level in blood Joint hyperflexibility Sparse scalp hair Pulmonic stenosis Narrow chest Otitis media Broad forehead Microtia Pectus carinatum Scarring Telecanthus Joint laxity Hypertrichosis Fine hair Ichthyosis Generalized osteoporosis Bowing of the legs Varicose veins Mild global developmental delay Periodontitis Bronchiectasis Gingivitis Genu recurvatum Short clavicles Proportionate short stature Curly hair Atrophic scars Elbow dislocation Bowing of the long bones Sparse eyebrow Lipodystrophy Radioulnar synostosis Hyperextensible skin Cutis laxa Sparse eyelashes Accelerated skeletal maturation Joint dislocation Abnormality of the face Sparse and thin eyebrow Pterygium Melanocytic nevus Small hand Severe postnatal growth retardation Delayed speech and language development Agenesis of corpus callosum Decreased fertility in females Pain Thymic hormone decreased Chorioretinitis Retinal pigment epithelial mottling CNS demyelination Menstrual irregularities Female infertility Abnormality of chromosome stability Atherosclerosis Leukodystrophy Anorexia Retinopathy Dementia Muscular hypotonia of the trunk Gait disturbance Dysarthria Cerebellar calcifications Subcortical white matter calcifications Myopia Myopathy Abnormal peripheral myelination Chronic obstructive pulmonary disease Pes planus Short palm Genu valgum Delayed puberty Pruritus Stroke Chronic lung disease Respiratory tract infection Apnea Neonatal hypotonia Thin upper lip vermilion IgM deficiency Abnormality of the nose Weight loss Respiratory failure Profound global developmental delay Hyperreflexia Clinodactyly Obesity Dilatation Acute myeloid leukemia Congestive heart failure Camptodactyly Blepharophimosis Keratitis Neoplasm of the eye Deep longitudinal plantar crease Second metatarsal posteriorly placed Sacral dimple Cardiomyopathy Skeletal muscle atrophy Malar flattening Immunodeficiency Macrocephaly Azoospermia Flat nasal alae Defective DNA repair after ultraviolet radiation damage Miosis Ankyloblepharon Papilloma Conjunctival telangiectasia Entropion Craniofacial hyperostosis Poikiloderma Blepharitis Freckling Macule Hypermelanotic macule Long ear Osteopetrosis Spotty hypopigmentation Neuronal loss in central nervous system Muscular dystrophy Arthrogryposis multiplex congenita Spotty hyperpigmentation Thin vermilion border Hirsutism Neurodegeneration Gliosis Delayed myelination Neoplasm of the gastrointestinal tract Agenesis of maxillary lateral incisor Facial telangiectasia in butterfly midface distribution Small for gestational age Hypoplasia of the iris Sloping forehead High pitched voice Joint contracture of the hand Hand polydactyly Abnormality of the hair Congenital muscular dystrophy Rocker bottom foot Microcornea Abnormality of the ear Elevated 7-dehydrocholesterol


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