Downslanted palpebral fissures, and Triangular face

Diseases related with Downslanted palpebral fissures and Triangular face

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

Top matches:

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Other less relevant matches:

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

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

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

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

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Triangular face

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Triangular face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Microcephaly Smooth philtrum Epicanthus Growth delay Short stature Hypoplasia of the corpus callosum Low-set ears Ventriculomegaly Delayed speech and language development High palate Seizures Upslanted palpebral fissure Pointed chin Frontal bossing Feeding difficulties Abnormality of the pinna Bulbous nose Motor delay Talipes equinovarus Thin upper lip vermilion Wide nasal bridge Retrognathia Micrognathia Intrauterine growth retardation Postnatal growth retardation Long philtrum

Rare Symptoms - Less than 30% cases

Abnormal heart morphology Agenesis of corpus callosum Pes planus Gastroesophageal reflux Joint laxity Hypoplasia of the maxilla Microretrognathia Strabismus Delayed ability to walk Abnormal cardiac septum morphology Poor speech Broad-based gait Brachycephaly Cutis laxa Growth abnormality Abnormality of the skeletal system Anteverted nares Cryptorchidism Malar flattening Narrow forehead Recurrent fractures Micropenis Telecanthus Posteriorly rotated ears Blue sclerae Protruding ear Ptosis High, narrow palate Focal-onset seizure Thin vermilion border Hydrocephalus Midface retrusion Macrocephaly Osteopenia Absent speech Depressed nasal bridge Narrow palate Microtia Prominent nasal bridge Narrow chest Thick lower lip vermilion Short ribs Dyspnea Bundle branch block Recurrent pneumonia Renal dysplasia Deep philtrum Coxa vara Scrotal hypoplasia Short palpebral fissure Laryngomalacia Genu varum Clitoral hypertrophy Coarctation of aorta Short thorax Coxa valga Inverted nipples Narrow mouth Colpocephaly Hypotelorism Bowing of the long bones Large fontanelles Narrow philtrum Congenital hip dislocation Oval face Redundant skin Premature skin wrinkling Prominent superficial veins Narrow nasal ridge Flat occiput Abnormal glycosylation Broad columella Gastrointestinal dysmotility Hypospadias Delayed skeletal maturation Mitral stenosis Low hanging columella Slender long bone Hypoplastic left heart Thoracic hypoplasia Severe postnatal growth retardation Mitral valve prolapse Entropion Patent ductus arteriosus Inguinal hernia Respiratory insufficiency Joint hypermobility Narrow naris Macrotia Hypertrophic cardiomyopathy Wide nasal base Cavum septum pellucidum Camptodactyly Hernia Blepharophimosis Polymicrogyria Sepsis Gliosis Convex nasal ridge Sloping forehead Narrow palpebral fissure Focal impaired awareness seizure Mask-like facies Disproportionate tall stature Coarse facial features Neonatal hypotonia Tracheomalacia Aplasia/Hypoplasia of the patella Right bundle branch block Growth hormone deficiency Renal cyst Calvarial skull defect Sparse axillary hair Talipes Sparse pubic hair Patellar aplasia Hypermetropia Breast hypoplasia Bronchomalacia Congestive heart failure Hypoplastic labia minora Wide mouth Birth length less than 3rd percentile Absent sternal ossification Cataract Flexion contracture Hydronephrosis Ventricular septal defect Cardiomyopathy Atrial septal defect Pneumonia Long toe Hip dislocation Turricephaly Kyphosis Pectus excavatum Proptosis Craniosynostosis Platyspondyly Oligohydramnios Wormian bones Reduced bone mineral density High pitched voice Thin ribs Coronal craniosynostosis Lisch nodules Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Peripheral neuropathy Areflexia Constipation Gait ataxia Abnormality of the foot Unsteady gait Axillary freckling Neoplasm of the lung Wide nose Short neck Anxiety Intellectual disability, moderate Highly arched eyebrow Generalized-onset seizure Nephrocalcinosis Obsessive-compulsive behavior Unilateral renal agenesis Hyperparathyroidism Obsessive-compulsive trait Neoplasm Hyperactivity Multiple cafe-au-lait spots Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Abnormality of skin pigmentation Specific learning disability Low posterior hairline Cafe-au-lait spot Neurofibromas Multiple lipomas Abnormality of the sternum Freckling Distal sensory impairment Sensory impairment Broad forehead Sacral dimple CNS hypomyelination Overfolded helix Global brain atrophy Clinodactyly Synophrys Small hand Broad nasal tip Decreased body weight Hemivertebrae Short chin Severe intrauterine growth retardation Leukodystrophy Deep palmar crease Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Scoliosis Prominent forehead Osteoporosis Mandibular prognathia Deeply set eye Mutism Progressive microcephaly Decreased nerve conduction velocity Skeletal muscle atrophy Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Hearing impairment Nystagmus Spasticity Hyperreflexia Hypertonia Postnatal microcephaly Short nose Babinski sign Cerebral cortical atrophy Muscular hypotonia of the trunk Pectus carinatum Generalized tonic-clonic seizures Arachnodactyly Inability to walk Thick vermilion border Brain atrophy Infra-orbital crease


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