Failure to thrive, and Microcornea

Diseases related with Failure to thrive and Microcornea

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

Top 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

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

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

Other less relevant matches:

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

High match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

High match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

High match KABUKI SYNDROME

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

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 Microcornea

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Telecanthus Hearing impairment Macrotia Ptosis Growth delay Thin vermilion border High palate Brachycephaly Microphthalmia Abnormality of the dentition Generalized hypotonia Cryptorchidism Malar flattening Midface retrusion Myopia Long philtrum Abnormal facial shape Retrognathia Cerebral cortical atrophy Wide nasal bridge Feeding difficulties Downslanted palpebral fissures Scoliosis Sensorineural hearing impairment Intellectual disability Muscular hypotonia Deeply set eye Ventriculomegaly Coloboma Short palpebral fissure Frontal bossing Hypertelorism Postaxial polydactyly Toe syndactyly Delayed speech and language development Optic atrophy Polydactyly Hydronephrosis Posteriorly rotated ears Micropenis Full cheeks Specific learning disability Short neck Strabismus Butterfly vertebrae Glaucoma Upslanted palpebral fissure Microdontia Low-set ears

Rare Symptoms - Less than 30% cases

Hyperglycemia Short nose Osteoporosis High forehead Absent speech Kyphoscoliosis Foot polydactyly Anteverted nares Hypertonia Flat occiput Small for gestational age Smooth philtrum Hypertrichosis Insulin resistance Preauricular skin tag Abnormal vertebral morphology Precocious puberty Lipodystrophy Clinodactyly of the 5th finger Joint laxity Hypoplasia of penis Muscular hypotonia of the trunk Depressivity Abnormal pupil morphology Postaxial foot polydactyly Talipes equinovarus Opacification of the corneal stroma Hypodontia Downturned corners of mouth Joint hypermobility Joint hyperflexibility Hip dislocation Cleft palate Corneal opacity Severe short stature Alopecia Hypospadias Protruding ear Short palm Macrocephaly Flexion contracture Talipes Conductive hearing impairment Cerebral atrophy Cerebellar hypoplasia Intrauterine growth retardation Brachydactyly Agenesis of corpus callosum Small scrotum Hemivertebrae Bilateral talipes equinovarus Broad palm Widely spaced teeth Short middle phalanx of finger Insulin-resistant diabetes mellitus Coarse facial features Highly arched eyebrow Short foot Delayed eruption of teeth Triangular face Dental malocclusion Underdeveloped nasal alae Iris coloboma Large fontanelles Narrow mouth Long nose Pachygyria Short columella Abnormality of dental morphology Abnormality of dental enamel Sparse eyelashes Prominent metopic ridge Small hand Wide nose Delayed skeletal maturation Polymicrogyria Clinodactyly Skeletal dysplasia Wide mouth Syndactyly Neural tube defect Sclerocornea Hydrocephalus Female hypogonadism Microglossia Recurrent infections Increased mean platelet volume Cerebellar cortical atrophy Obesity Ambiguous genitalia, male Generalized osteoporosis Adrenal hypoplasia Anisopoikilocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Delayed CNS myelination Lambdoidal craniosynostosis Schistocytosis Severe generalized osteoporosis Foam cells with lamellar inclusion bodies Abnormality of the hypothalamus-pituitary axis Bilobate gallbladder Lumbosacral meningocele Thick upper lip vermilion Abnormality of the thoracic spine Anterior hypopituitarism Abnormality of the cervical spine Anterior pituitary hypoplasia Acanthocytosis Pathologic fracture Intrahepatic cholestasis Hypertension Small sella turcica Abnormality of the liver Elevated hepatic transaminase Hepatosplenomegaly Myoclonus Thrombocytopenia Hepatomegaly Microphakia Bulbous nose Facial hypertrichosis Posterior synechiae of the anterior chamber Posterior uveitis Hyperglycinuria Anteverted ears Retinal coloboma Enlarged cisterna magna Hepatic failure Flexion contracture of thumb Myelomeningocele Hyperbilirubinemia Meningocele Biparietal narrowing Bifid scrotum Inferior vermis hypoplasia Portal hypertension Elevated alkaline phosphatase Arnold-Chiari malformation Horseshoe kidney Cerebral calcification Gingival overgrowth Cholestasis Sloping forehead Orbital cyst Narrow forehead Uplifted earlobe Postaxial hand polydactyly Preaxial hand polydactyly Concave nasal ridge EEG abnormality Hip dysplasia Abnormality of epiphysis morphology Elevated 8-dehydrocholesterol Elevated 8(9)-cholestenol Limb undergrowth Tarsal stippling Dandy-Walker malformation Stippled calcification in carpal bones Esotropia Punctate vertebral calcifications Cortical dysplasia Flat face Ichthyosis Sparse hair Erythema Abnormality of the pinna Postnatal growth retardation Intellectual disability, moderate Rhizomelia Tracheal calcification Polyhydramnios Erythroderma Tracheal stenosis Patellar dislocation Abnormality of hair texture Epiphyseal stippling Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Scarring alopecia of scalp Hemiatrophy Abnormality of the thorax Hyperkeratosis with erythema Scaling skin Coarse hair Abnormality of pelvic girdle bone morphology Abnormality of the fingernails Joint dislocation Patchy alopecia Sparse and thin eyebrow Vertebral wedging Abnormality of the nervous system Hyperkeratosis Anophthalmia Abnormal form of the vertebral bodies Abnormal localization of kidney Sparse lateral eyebrow Short 5th finger Abnormality of immune system physiology Mask-like facies Renal hypoplasia/aplasia Abnormal dermatoglyphics Long eyelashes Blue sclerae Duplicated collecting system Coarctation of aorta Congenital diaphragmatic hernia Oral cleft Abnormal cardiac septum morphology Aplasia/Hypoplasia of the corpus callosum Dry hair Chorioretinal coloboma Proximal placement of thumb Ureteropelvic junction obstruction Vertebral clefting Kyphosis Finger syndactyly Edema Abnormality of the skeletal system Eversion of lateral third of lower eyelids Lip pit Blindness Hypothyroidism Crossed fused renal ectopia Craniosynostosis Facial asymmetry Plagiocephaly Retinal dystrophy Single transverse palmar crease Bifid uvula Nail dysplasia High myopia Renal hypoplasia Microretrognathia Severe muscular hypotonia External genital hypoplasia Prominent supraorbital ridges Neurodevelopmental delay Blepharophimosis Abdominal distention High, narrow palate Hirsutism Long face Dry skin Arachnodactyly Short philtrum Hypoglycemia Epidermal acanthosis Dyspnea Mandibular prognathia Respiratory failure Respiratory distress Neoplasm Euryblepharon Osteochondrosis Cerebral cortical hemiatrophy Sepsis Narrow face Duplication of thumb phalanx Fasting hypoglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Thick nail Acanthosis nigricans Abnormality of the optic nerve Long foot Ketoacidosis Protuberant abdomen Ovarian neoplasm Absent eyebrow Clitoral hypertrophy Hyperinsulinemia Retinoschisis Macrogyria Abnormality of upper lip Mild global developmental delay Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Persistent pupillary membrane Broad long bones Cranial hyperostosis Cutaneous syndactyly of toes Hypoplasia of teeth Large earlobe Spinal cord compression 2-4 toe cutaneous syndactyly Narrow nose Basal ganglia calcification Hyperostosis Dental crowding Sparse scalp hair Fine hair Overgrowth Hypoplasia of the maxilla 4-5 finger syndactyly Joint stiffness Subcortical cerebral atrophy Dysphasia Abnormality of the upper urinary tract Optic nerve coloboma Echolalia Heterochromia iridis Depressed nasal tip Transient ischemic attack Palpebral edema Long palpebral fissure Aphasia Prominent nose Delayed cranial suture closure Hydroureter Trigonocephaly Mutism Lissencephaly Pointed chin Low posterior hairline Webbed neck Postprandial hyperglycemia Onychauxis Spastic diplegia Rieger anomaly Motor delay Visual impairment Spasticity Muscle weakness Abnormality of the zygomatic bone Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Abnormality of the mandible Hypoplasia of the corpus callosum Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Hyperreflexia Intellectual disability, severe Poor appetite Tetraparesis Overlapping toe Bilateral cryptorchidism Hyperextensible skin Cerebral palsy Spastic tetraparesis Cerebral visual impairment Progressive muscle weakness Postnatal microcephaly Convex nasal ridge Cerebellar atrophy Delayed myelination Brain atrophy Tetraplegia Congenital cataract Arthrogryposis multiplex congenita Severe global developmental delay Neonatal hypotonia Hypogonadism Megalocornea Abnormality of the immune system Depressed nasal bridge Deep palmar crease Hypoplastic areola Prominent median palatal raphe Abnormal peripheral nervous system morphology Wide nasal ridge Large fleshy ears Long upper lip Deep plantar creases Broad philtrum Broad face Hernia High anterior hairline Pendular nystagmus Broad foot Multiple lipomas Infantile muscular hypotonia Narrow palpebral fissure Wide intermamillary distance Everted lower lip vermilion Unilateral narrow palpebral fissure Abnormal heart morphology Lipoatrophy Decreased body weight Reduced subcutaneous adipose tissue Congenital glaucoma Glucose intolerance Radial deviation of finger Short chin Nephrocalcinosis Congenital hip dislocation Increased body weight Abnormality of the face Inguinal hernia Thin skin Bilateral sensorineural hearing impairment Abnormality of the skin Hypotrichosis Neurological speech impairment Weight loss Diabetes mellitus Prominent forehead Aplasia of the optic tract


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