Failure to thrive, and Telecanthus

Diseases related with Failure to thrive and Telecanthus

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

Top matches:

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Other less relevant matches:

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER 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

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Thin vermilion border

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Wide nasal bridge Hearing impairment Depressed nasal bridge Short stature Strabismus Seizures Brachycephaly Long nose Feeding difficulties Microcornea Underdeveloped nasal alae Generalized hypotonia Deeply set eye Nystagmus Short philtrum Long philtrum Microdontia Smooth philtrum Wide nose Mandibular prognathia Short palpebral fissure Short neck Short nose Myopia Downslanted palpebral fissures Cleft palate Prominent forehead Upslanted palpebral fissure Sensorineural hearing impairment Clinodactyly Wide mouth Syndactyly Delayed speech and language development Low-set ears

Rare Symptoms - Less than 30% cases

Large fontanelles Retrognathia Dry skin Flat occiput Hypoplasia of the maxilla Abdominal distention Hirsutism High, narrow palate Delayed eruption of teeth Triangular face Abnormality of the dentition Ptosis Dental malocclusion Short foot Aniridia Scoliosis Cataract Midface retrusion Abnormality of the genital system Redundant skin Atrial septal defect Malar flattening Sparse eyebrow Everted lower lip vermilion Microphthalmia High forehead Micropenis Hypertrichosis Coarse facial features Behavioral abnormality Small for gestational age Abnormality of the pinna Downturned corners of mouth Muscular hypotonia of the trunk Hypothyroidism Blepharophimosis Cryptorchidism Brachydactyly Depressed nasal tip Heterochromia iridis Highly arched eyebrow Specific learning disability Prominent nasal bridge Wide intermamillary distance Prominent nose Full cheeks Widely spaced teeth Intellectual disability, severe Prominent metopic ridge Absent speech Long upper lip Anteverted nares Hypospadias Abnormality of the skeletal system Cleft lip Flexion contracture High palate Vomiting Preauricular skin tag Euryblepharon Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Optic atrophy Duplication of thumb phalanx Respiratory distress Respiratory failure Dyspnea Hypoglycemia Arachnodactyly Long face Sepsis Epidermal acanthosis Neoplasm Atelectasis Poliosis Premature graying of hair Thick vermilion border Abnormality of skin pigmentation Paraplegia Synophrys Arthrogryposis multiplex congenita Aganglionic megacolon Anorexia Joint contracture of the hand Scapular winging Hypopigmented skin patches Congenital sensorineural hearing impairment Albinism Cutaneous finger syndactyly Dacryocystitis Spastic paraplegia Sprengel anomaly Vitiligo Carpal synostosis Blue irides White hair Hypopigmentation of the skin White forelock Bronchomalacia Camptodactyly of finger Narrow naris Partial albinism Insulin resistance Abnormality of upper lip Narrow face Abnormal peripheral nervous system morphology Hypertension Anemia Muscular hypotonia Unilateral narrow palpebral fissure Hypoplastic areola Prominent median palatal raphe Small scrotum Autism Wide nasal ridge Large fleshy ears Deep plantar creases Broad philtrum Deep palmar crease Broad face Obesity Autistic behavior Pendular nystagmus Exostoses Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Turricephaly Broad forehead Self-injurious behavior Nephroblastoma Cutaneous syndactyly Wormian bones Broad nasal tip Single transverse palmar crease Delayed puberty High anterior hairline Broad foot Acanthosis nigricans Protuberant abdomen Fasting hypoglycemia Thick nail Abnormality of the optic nerve Long foot Ketoacidosis Insulin-resistant diabetes mellitus Ovarian neoplasm Advanced eruption of teeth Absent eyebrow Hyperglycemia Clitoral hypertrophy Lipodystrophy Precocious puberty Hyperinsulinemia Long penis Thin eyebrow Broad palm Posteriorly rotated ears Multiple lipomas Infantile muscular hypotonia Narrow palpebral fissure Short palm Joint laxity Macrotia Hypertonia Choroideremia Onychauxis Subcortical cerebral atrophy Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Macrogyria Posterior embryotoxon Abnormality of the upper urinary tract Absent nipple Generalized hirsutism Cutis laxa Hyperextensible skin Dermal atrophy Atresia of the external auditory canal Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Skin tags Gingival fibromatosis Sparse and thin eyebrow Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Frontal bossing Delayed skeletal maturation Narrow mouth Toe syndactyly Small hand Low anterior hairline Abnormality of the face Fine hair Protruding ear Cognitive impairment Ventriculomegaly Hyperactivity Aggressive behavior Delayed myelination Esotropia Growth hormone deficiency Neurodevelopmental delay Spasticity Motor delay Hypoplasia of the corpus callosum Dystonia Agenesis of corpus callosum Thin upper lip vermilion Neurological speech impairment Depressed nasal ridge Bifid uvula Round face Absence seizures Microretrognathia Partial agenesis of the corpus callosum Bruxism Prominent nasal tip Talipes equinovarus Rigidity Conductive hearing impairment Microtia Bulbous nose Ectodermal dysplasia Abnormality of the skin Overgrowth Sparse scalp hair Optic nerve coloboma Webbed neck Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Rieger anomaly Aplasia/Hypoplasia of the iris Ureteral stenosis Hypoplastic iris stroma Retinal vein occlusion Cerebral cortical atrophy Skeletal dysplasia Hydronephrosis Joint stiffness Polymicrogyria Iris coloboma Low posterior hairline Concave nasal ridge Pachygyria Pointed chin Lissencephaly Mutism Trigonocephaly Hydroureter Delayed cranial suture closure Aphasia Dysphasia Long palpebral fissure Palpebral edema Transient ischemic attack Short columella Echolalia Peters anomaly Ectopia pupillae Dental crowding Macrodontia of permanent maxillary central incisor Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Hyperostosis Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Fifth finger distal phalanx clinodactyly Hypoplasia of the iris 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Abnormality of cardiovascular system morphology Hernia Patent ductus arteriosus Abnormal heart morphology Glaucoma Proptosis Abnormal cardiac septum morphology Hypodontia Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Cerebellar vermis hypoplasia Anal stenosis Cutaneous syndactyly between fingers 2 and 5


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