Downslanted palpebral fissures, and Agenesis of corpus callosum

Diseases related with Downslanted palpebral fissures and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Agenesis of corpus callosum that can help you solving undiagnosed cases.

Top matches:

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Other less relevant matches:

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

High match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Seizures Generalized hypotonia Wide nasal bridge Retrognathia Talipes equinovarus Cleft palate Growth delay Hypoplasia of the corpus callosum Epicanthus Cryptorchidism Joint hypermobility Low-set ears Micrognathia Hearing impairment Anteverted nares Ventriculomegaly Posteriorly rotated ears Hypoplasia of the maxilla Hypotelorism Respiratory distress Narrow mouth Abnormality of the pinna Respiratory insufficiency Severe global developmental delay Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Muscular hypotonia Aglossia Failure to thrive Hydrocephalus Visual impairment Broad forehead Pectus excavatum Poor speech Delayed ability to walk Frontal bossing Micropenis Scoliosis Nystagmus Sensorineural hearing impairment Microphthalmia Wide mouth Patent ductus arteriosus Gastroesophageal reflux Coloboma Prominent nasal bridge Poor head control Proboscis Hypogonadism Mandibular aplasia Joint laxity Telecanthus Absent speech Neonatal hypotonia Triangular face Abnormal heart morphology Depressed nasal bridge Abnormality of the eye Protruding ear Ptosis Holoprosencephaly Intellectual disability, severe Feeding difficulties Microglossia Optic atrophy Pointed chin Inverted nipples Hypoplastic left heart Progressive microcephaly Flat occiput Deep philtrum Narrow palate Intellectual disability, progressive Renal dysplasia Short chin Low hanging columella Short palpebral fissure Coarctation of aorta Areflexia Mitral valve prolapse Proteinuria Pachygyria Broad columella Mitral stenosis Ichthyosis Congestive heart failure Ataxia Stroke Abnormality of the dentition Infra-orbital crease Dolichocephaly Abnormality of eye movement Long face Gastrointestinal dysmotility Polymicrogyria Polyneuropathy Macrotia Nephrotic syndrome Narrow philtrum Depressed nasal ridge Oval face Peripheral neuropathy Palmoplantar keratoderma Low-set, posteriorly rotated ears Abnormality of vision Retinal dystrophy Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Cataract Myopia Hypothyroidism Photophobia Scarring Retinopathy Astigmatism Microcornea Central diabetes insipidus Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Anophthalmia Short middle phalanx of finger Posterior embryotoxon Hypoplasia of the fovea Retinal dysplasia Central hypothyroidism Ectopic posterior pituitary Macular scar Long hallux Gonadotropin deficiency Palmoplantar hyperkeratosis Oral cleft Cortical dysplasia Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Optic disc hypoplasia Syndactyly Hypospadias Cleft lip Renal cyst Craniosynostosis Cleft upper lip Wide nose Megalocornea Ectodermal dysplasia Intellectual disability, profound Split hand Encephalocele Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Hypoplasia of the brainstem Diabetes insipidus Non-midline cleft lip Abnormality of digit Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Growth hormone deficiency Brachycephaly Smooth philtrum Facial asymmetry Abnormality of the outer ear Atresia of the external auditory canal Transposition of the great arteries Tracheomalacia Stenosis of the external auditory canal Hyperplasia of the maxilla Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Synotia Inability to walk Intestinal malrotation Delayed myelination Open mouth Plagiocephaly Delayed gross motor development Tented upper lip vermilion Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Situs inversus totalis Pulmonary hypoplasia Macrocephaly Tetraparesis Hyperreflexia Dystonia Encephalopathy Cerebellar hypoplasia Myoclonus EEG abnormality Lethargy Abnormality of movement Esotropia Hypsarrhythmia Choreoathetosis Anal atresia Tall stature Leukodystrophy Severe muscular hypotonia Spastic tetraparesis Abnormal cortical gyration Posterior fossa cyst Multifocal epileptiform discharges High-pitched cry Atrial septal defect Polyhydramnios Conductive hearing impairment High palate Ventricular septal defect Talipes Cutis laxa Osteopenia Deeply set eye Postnatal growth retardation Hip dislocation Bulbous nose Recurrent fractures Blue sclerae Bowing of the long bones Large fontanelles Congenital hip dislocation Growth abnormality Osteoporosis Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Upslanted palpebral fissure Coarse facial features Pes planus Hydronephrosis Hypermetropia Mandibular prognathia Prominent forehead Short neck Blepharophimosis High forehead Iris coloboma Choanal atresia Cupped ear Broad neck Optic nerve coloboma Strabismus Delayed speech and language development Edema Long philtrum Camptodactyly Short philtrum Midface retrusion Abnormality of the cerebral white matter Flat face Downturned corners of mouth Round face Bilateral ptosis Language impairment Vertebral fusion Abnormal myelination Unilateral cryptorchidism Abnormality of the skeletal system Malar flattening Myopic astigmatism


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Joint hypermobility, related diseases and genetic alterations