Failure to thrive, and Iris coloboma

Diseases related with Failure to thrive and Iris coloboma

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

Top matches:

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

High match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Other less relevant matches:

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

High match COHEN SYNDROME

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

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

Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Top 5 symptoms//phenotypes associated to Failure to thrive and Iris coloboma

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Micrognathia Coloboma Agenesis of corpus callosum Clinodactyly of the 5th finger Scoliosis High palate Muscular hypotonia Cataract Growth delay Ventriculomegaly Generalized hypotonia Short stature Wide nasal bridge Abnormal facial shape Retrognathia Hypertelorism Coarctation of aorta Epicanthus Joint hyperflexibility Cerebral cortical atrophy Pectus excavatum Hydronephrosis Skeletal dysplasia Toe syndactyly Malar flattening Wide mouth Intrauterine growth retardation Sensorineural hearing impairment Cleft palate Dysphasia Patent ductus arteriosus Abnormality of cardiovascular system morphology Preauricular skin tag Downslanted palpebral fissures Talipes equinovarus Atrial septal defect Hypertonia Optic atrophy Nystagmus Cerebral atrophy Ventricular septal defect

Rare Symptoms - Less than 30% cases

Frontal bossing Hypoplasia of penis Hypoplasia of the maxilla Cleft upper lip Microtia Absent speech Brachycephaly Abnormal vertebral morphology Sclerocornea Midface retrusion Chorioretinal coloboma Abnormality of the dentition Bifid scrotum Clinodactyly Preaxial hand polydactyly Epibulbar dermoid Low anterior hairline Adducted thumb Small nail Nail dysplasia Bifid uvula Bulbous nose Arachnodactyly Abnormality of the pinna Cerebellar hypoplasia Macrotia Abnormality of vision Low-set ears Reduced number of teeth Abnormal eyelid morphology Interrupted aortic arch Broad hallux phalanx Foot polydactyly Posteriorly rotated ears Broad thumb Single transverse palmar crease Short middle phalanx of finger Myopia Blindness Vesicoureteral reflux Finger syndactyly Neurological speech impairment Delayed puberty Abnormal eyelash morphology Hearing impairment Brachydactyly Abnormal cardiac septum morphology Joint laxity Hypospadias Hypothyroidism Inguinal hernia Behavioral abnormality Hydrocephalus Macrocephaly Facial asymmetry Renal hypoplasia Subcutaneous nodule Rectovaginal fistula Eyelid coloboma Hypoplasia of the zygomatic bone Glossoptosis Ankyloglossia Hypoplasia of the corpus callosum Subcortical cerebral atrophy Joint stiffness Short neck Highly arched eyebrow Microcornea Full cheeks Neoplasm Delayed speech and language development Mutism Aphasia Diarrhea Echolalia Alopecia Hyperactivity Long philtrum Visual impairment Autism Autistic behavior Osteochondrosis Tetraplegia Flexion contracture Narrow palm Rectoperineal fistula Abnormality of the tragus Urethral valve Bifid uterus Crossed fused renal ectopia Absent toe Spasticity Partial duplication of thumb phalanx Abnormal pulmonary valve morphology Toe clinodactyly Abnormal vagina morphology Abnormality of the uterus Aplasia/Hypoplasia of the 3rd toe Paralysis Weak cry Nevus Failure to thrive in infancy Pulmonary arterial hypertension Intellectual disability, profound Cerebral calcification Cubitus valgus Dandy-Walker malformation Hypotrichosis Rigidity Abnormality of the hip bone Papule Corneal opacity Retinopathy Scarring Multiple renal cysts Lower limb asymmetry Ulnar deviation of finger External ear malformation Pes planus Tetralogy of Fallot Anal atresia Macrodontia Abnormality of the foot Blepharophimosis Abnormality of the kidney Pneumonia Encephalopathy Constipation Renal insufficiency Weight loss Chorioretinal dystrophy Slender toe Cat cry Abnormality of the ribs Thrombocytopenia Aplasia/Hypoplasia of the tongue Hemiparesis Anteriorly placed anus Bowel incontinence Ectopic kidney Motor delay Hepatomegaly Cupped ear Aplasia/Hypoplasia of the earlobes Thick hair Fever Overfolded helix Arnold-Chiari malformation Cranial nerve paralysis Spina bifida occulta Spina bifida Triphalangeal thumb Hemangioma Abnormality of the face Protruding ear Plagiocephaly Severe muscular hypotonia Microretrognathia High myopia Retinal dystrophy Postaxial polydactyly Craniosynostosis High forehead Proximal placement of thumb Micropenis Polydactyly Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Odontoma Neurodevelopmental abnormality Aplasia/Hypoplasia of the corpus callosum Anophthalmia Pelvic kidney Abnormality of the cervical spine Small sella turcica Flexion contracture of thumb Small scrotum Uplifted earlobe Orbital cyst Inferior vermis hypoplasia Female hypogonadism Anterior pituitary hypoplasia Broad palm Lambdoidal craniosynostosis Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Microglossia Adrenal hypoplasia Postaxial foot polydactyly Neoplasm of the skeletal system Chorioretinitis Aortic valve stenosis Absent septum pellucidum Abnormality of the skull Arachnoid cyst Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Hamartoma Multiple lipomas Ataxia Cortical dysplasia Lipodystrophy Hemiplegia Gingival overgrowth Sacral dimple Osteolysis Muscle stiffness Capillary hemangioma Skin tags Hemiatrophy Glioma Subcutaneous lipoma Tricuspid valve prolapse Abnormal nasolacrimal system morphology Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Porencephalic cyst Dysostosis multiplex Bone cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Craniofacial hyperostosis Astrocytoma Xanthomatosis Hemihypertrophy Ectopia pupillae Sandal gap High, narrow palate Abnormality of retinal pigmentation Tracheoesophageal fistula Blepharospasm Absent eyelashes Large fontanelles Facial cleft Abnormality of the vertebral column Open bite Abnormality of dental morphology Low posterior hairline Pointed chin Scrotal hypoplasia Abnormality of dental enamel Lissencephaly Abnormality of the hair Encephalocele Choanal atresia Pachygyria Specific learning disability Hydroureter Webbed neck Anxiety Deeply set eye Thin vermilion border Polymicrogyria Depressivity Wide nose Prominent nose Short face Hypoplasia of the thymus Narrow internal auditory canal Branchial fistula Multiple enchondromatosis Abnormality of bone mineral density Abnormality of the adrenal glands Abnormality of the middle ear Thyroid hypoplasia Trigonocephaly Delayed cranial suture closure Intellectual disability, moderate Cerebral cortical hemiatrophy Abnormality of the upper urinary tract Joint contracture of the hand Cerebral visual impairment Macrogyria Hypsarrhythmia Duplication of thumb phalanx Retinoschisis Arthrogryposis multiplex congenita Hypoplastic nipples Severe global developmental delay Euryblepharon Abnormality of the eye Muscular hypotonia of the trunk Depressed nasal bridge Hyperreflexia Cerebellar atrophy Long fingers Severe vision loss Conductive hearing impairment Respiratory insufficiency Narrow mouth Long nose Long palpebral fissure Prominent metopic ridge Palpebral edema Transient ischemic attack Short columella Depressed nasal tip Villous atrophy Heterochromia iridis Optic nerve coloboma Food intolerance Clinodactyly of the 5th toe Type I transferrin isoform profile Portal fibrosis Decreased light- and dark-adapted electroretinogram amplitude Aggressive behavior Telecanthus Long eyelashes Pierre-Robin sequence Oral synechia Prominent antihelix Knee dislocation Metatarsus valgus Overriding aorta Thin eyebrow Short hallux Short humerus Ulnar deviation of the 2nd finger Cystic hygroma Dextrocardia Aspiration Chronic otitis media Narrow palpebral fissure Joint dislocation Finger clinodactyly Radial deviation of the 2nd finger Hyperphalangy of the 2nd finger Wide anterior fontanel Abnormality of skin pigmentation Open mouth Decreased fetal movement Mitral valve prolapse Neutropenia Tapered finger Vomiting Thick eyebrow Genu valgum Spastic tetraplegia Lethargy Febrile seizures Prominent nasal bridge Short philtrum Feeding difficulties in infancy Obesity Kyphosis Short toe Abnormality of epiphysis morphology Attention deficit hyperactivity disorder Broad hallux Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Truncus arteriosus Uraciluria Transposition of the great arteries High hypermetropia Hand polydactyly Aspiration pneumonia Schizophrenia Ptosis Feeding difficulties Sleep disturbance Short foot Joint hypermobility Coarse facial features Diffuse cerebral atrophy Abnormality of the skeletal system Decreased body weight Camptodactyly Hypertrichosis Leukopenia Short distal phalanx of finger Talipes Pectus carinatum Camptodactyly of finger Postnatal growth retardation Low-set, posteriorly rotated ears Hypoventilation Umbilical hernia Proptosis Upslanted palpebral fissure Delayed gross motor development Edema Breast carcinoma Respiratory distress Aplasia of the optic tract


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