Failure to thrive, and Coloboma

Diseases related with Failure to thrive and Coloboma

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

Top matches:

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

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

Other less relevant matches:

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

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

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Medium 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

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Abnormal facial shape Microcephaly Generalized hypotonia Microphthalmia High palate Visual impairment Nystagmus Epicanthus Muscular hypotonia Short stature Wide nasal bridge Hyperactivity Feeding difficulties Arachnodactyly Diarrhea Iris coloboma Optic nerve coloboma Downslanted palpebral fissures Cerebral atrophy Micrognathia Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Hypertonia Ventriculomegaly Delayed speech and language development Brachydactyly Optic atrophy Scoliosis Agenesis of corpus callosum Alopecia Joint stiffness Anteverted nares Astigmatism Short palm Retinal dystrophy Coarctation of aorta Hearing impairment Pectus excavatum Cerebellar atrophy Hypoplasia of the corpus callosum Telecanthus Pachygyria Lissencephaly Transient ischemic attack Low-set ears Macrocephaly Camptodactyly Neoplasm Blindness Ataxia Long nose Central apnea Long fingers Hand clenching Severe global developmental delay Small for gestational age Midface retrusion Autistic behavior Neonatal hypotonia Sloping forehead Blepharophimosis Villous atrophy Short neck Postaxial polydactyly Noncommunicating hydrocephalus Hypoplastic male external genitalia Glomerulosclerosis Cortical gyral simplification Elongated superior cerebellar peduncle Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Thickened superior cerebellar peduncle Hypoalbuminemia Enlarged fossa interpeduncularis Flexion contracture Metopic synostosis Corpus callosum atrophy Hyperreflexia Talipes equinovarus Hypocalcemia Vomiting Craniosynostosis Absent speech Diffuse mesangial sclerosis Clinodactyly Macrotia Muscular hypotonia of the trunk Abnormality of the eye Abnormality of the pinna Leukodystrophy Abnormality of ocular smooth pursuit Abnormal saccadic eye movements Renal cyst Chorioretinal coloboma Abnormal cerebellum morphology Esotropia Dandy-Walker malformation Abnormality of the foot Postaxial hand polydactyly Apraxia Encephalocele Renal dysplasia Dolichocephaly Hepatic fibrosis Oculomotor apraxia Abnormal electroretinogram Patent foramen ovale Hypoplasia of the brainstem Accessory oral frenulum Molar tooth sign on MRI External genital hypoplasia Nephronophthisis Hypoplastic left heart Acute kidney injury Retinopathy Focal segmental glomerulosclerosis Congenital blindness Impaired smooth pursuit Bulbous nose Agenesis of cerebellar vermis Abnormal renal physiology Abnormal corpus callosum morphology Rotary nystagmus Arthrogryposis multiplex congenita Small nail Bifid uvula Eyelid coloboma Epibulbar dermoid Fibroma Bladder exstrophy Epispadias Abnormality of nervous system morphology Lower limb asymmetry Arachnoid cyst Hip dislocation Abnormality of the ureter Aplasia cutis congenita Generalized hyperpigmentation Hamartoma Absent septum pellucidum Stage 5 chronic kidney disease Abnormality of the penis Parietal bossing Aplasia/Hypoplasia of the skin Cerebellar hypoplasia Spasticity Intrauterine growth retardation Edema Ossifying fibroma Anisometropia Gastrointestinal atresia Narrow mouth Abnormality of the bladder Deeply set eye Abnormal conjunctiva morphology Exstrophy Proteinuria Laryngeal hypoplasia Epidermal nevus Ichthyosis Multiple lipomas Nail dysplasia Severe vision loss Postnatal microcephaly Food intolerance Clinodactyly of the 5th toe Type I transferrin isoform profile Portal fibrosis Decreased light- and dark-adapted electroretinogram amplitude Hypoplastic nipples Abnormality of cardiovascular system morphology Abnormality of vision Adducted thumb Joint contracture of the hand Cerebral visual impairment Cryptorchidism Hypsarrhythmia Short nose Hypospadias Abnormality of the ear Narrow forehead Opacification of the corneal stroma Lymphedema Hyperpigmentation of the skin Convex nasal ridge Polydactyly Short palpebral fissure Oligohydramnios Proptosis Nephrotic syndrome Abnormality of the cardiovascular system Nevus Facial asymmetry Stroke Polyhydramnios Aganglionic megacolon Large fontanelles Renal insufficiency Diffuse cerebral atrophy Visual loss Myopia Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Stomatitis Aspiration pneumonia Photophobia Hypoventilation Breast carcinoma Delayed gross motor development Leukopenia Aspiration Spastic tetraplegia Severe short stature Hyperlordosis Tetraplegia Abnormality of the ribs Metaphyseal widening Cone/cone-rod dystrophy Coxa vara Rhizomelia Bowing of the long bones Recurrent otitis media Limb undergrowth Postnatal growth retardation Progressive visual loss Waddling gait Short metacarpal Dental malocclusion Platyspondyly Nyctalopia Febrile seizures Lethargy Bowing of the legs Interphalangeal joint contracture of finger Arthritis Posteriorly rotated ears Bullet-shaped distal phalanx of the hallux Abnormality iris morphology Abnormal oral frenulum morphology Small face Toe syndactyly Abdominal distention Short philtrum Camptodactyly of finger Low-set, posteriorly rotated ears Behavioral abnormality Cataract Cleft palate Anal atresia Sepsis Autism Motor delay Weight loss Pneumonia Encephalopathy Thrombocytopenia Fever Hepatomegaly Vaginal fistula Abnormal intestine morphology Secretory diarrhea Intractable diarrhea Trichorrhexis nodosa Choanal stenosis Underdeveloped supraorbital ridges Celiac disease Metaphyseal irregularity Flared metaphysis Hydrocephalus Specific learning disability Delayed cranial suture closure Hydroureter Trigonocephaly Mutism Pointed chin Low posterior hairline Webbed neck Dysphasia Prominent nose Full cheeks Microcornea Highly arched eyebrow Wide nose Polymicrogyria Aphasia Long palpebral fissure Wide mouth Macrogyria Frontal bossing Euryblepharon Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Duplication of thumb phalanx Subcortical cerebral atrophy Prominent metopic ridge Abnormality of the upper urinary tract Echolalia Heterochromia iridis Depressed nasal tip Short columella Palpebral edema Thin vermilion border Hydronephrosis Abnormality of color vision Iris hypopigmentation Enlarged joints Ectopia pupillae Ovoid vertebral bodies Beaking of vertebral bodies Retinal atrophy Peripheral visual field loss Thoracic scoliosis Metaphyseal cupping Macular atrophy Disproportionate short stature High hypermetropia Short finger Tibial bowing Femoral bowing Spondylometaphyseal dysplasia Cone dysfunction syndrome Coarse facial features Tibial torsion Skeletal dysplasia Retrognathia Cerebral cortical atrophy Long philtrum Ptosis Hypoplastic inferior ilia Large central visual field defect Limited elbow movement Cupped ribs Severe platyspondyly Retinal thinning Narrow greater sacrosciatic notches Decreased hip abduction Abnormality of macular pigmentation Hypertensive crisis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Autism, related diseases and genetic alterations Cardiomyopathy and Severe short stature, related diseases and genetic alterations Nystagmus and Pes cavus, related diseases and genetic alterations Scoliosis and Ventriculomegaly, related diseases and genetic alterations Seizures and Hip dysplasia, related diseases and genetic alterations Motor delay and Hypodontia, related diseases and genetic alterations