Downslanted palpebral fissures, and Joint laxity

Diseases related with Downslanted palpebral fissures and Joint laxity

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

Top matches:

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

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

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Other less relevant matches:

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

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

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

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

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

High match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Joint laxity

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Blue sclerae Hypertelorism Posteriorly rotated ears Short stature Malar flattening Growth delay Abnormal facial shape Low-set ears Microcephaly Failure to thrive Abnormality of the skeletal system Ptosis Dilatation Prominent forehead Long philtrum Waddling gait Feeding difficulties Midface retrusion Delayed speech and language development Joint hypermobility

Rare Symptoms - Less than 30% cases

Hypothyroidism Arachnodactyly Inguinal hernia Premature skin wrinkling Agenesis of corpus callosum Pectus excavatum Ventriculomegaly Craniosynostosis Intrauterine growth retardation Cognitive impairment Scarring Hypoplasia of the maxilla Prominent superficial veins Thin skin Abnormality of the pinna Broad forehead Joint dislocation Aortic root aneurysm Seizures Talipes equinovarus Cutis laxa Redundant skin Aortic aneurysm Bifid uvula Growth hormone deficiency Abnormality of the cerebral white matter Arterial tortuosity Recurrent fractures Hydrocephalus Scoliosis Macrocephaly Bulbous nose Osteoporosis Emphysema Cryptorchidism Triangular face Hypoplasia of the corpus callosum Abnormal cardiac septum morphology Abnormal heart morphology Proptosis Osteopenia Skeletal dysplasia Pes planus Postnatal growth retardation Camptodactyly of finger Thin upper lip vermilion Retrognathia Flexion contracture Bruising susceptibility Epicanthus Arterial stenosis Metaphyseal dysplasia Retinal dysplasia Epiphyseal dysplasia Sacral dimple Shock Hypoplasia of the fovea Soft skin Abnormality of the vasculature Myopic astigmatism Protruding tongue Hoarse voice Pulmonary insufficiency Narrow naris Biventricular hypertrophy Rhizomelia Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Narrow palpebral fissure Bradycardia Spina bifida Beaking of vertebral bodies Hernia Diaphyseal dysplasia Anterior pituitary hypoplasia Aglossia Proboscis Toenail dysplasia Macular scar Mandibular aplasia Ectopic posterior pituitary Depressed nasal bridge Broad neck Central hypothyroidism Depressed nasal ridge Convex nasal ridge Overgrowth Oligohydramnios Congenital diaphragmatic hernia Amelogenesis imperfecta Postnatal microcephaly Aortic dissection Generalized arterial tortuosity Mitral valve prolapse Narrow nasal ridge Abnormal glycosylation Posterior embryotoxon Patent ductus arteriosus Pectus carinatum Dolichocephaly Joint hyperflexibility Oral cleft Abnormal bleeding Thoracic aortic aneurysm Dural ectasia Tall stature Cardiac arrest Bicuspid aortic valve Ectopia lentis Abnormality of the sternum Striae distensae Subarachnoid hemorrhage Pneumothorax Dilatation of the cerebral artery Atypical scarring of skin Colpocephaly Arterial dissection Elevated hepatic transaminase Protruding ear Pulmonary artery dilatation Hepatosplenomegaly Spondylolisthesis Kyphoscoliosis Frontal bossing Severe short stature Brachycephaly Mandibular prognathia Gastroesophageal reflux Deeply set eye Hip dislocation Growth abnormality Hypotelorism Bowing of the long bones Large fontanelles Elevated serum creatine phosphokinase Thrombocytopenia Fever Hepatomegaly Congenital hip dislocation Muscle weakness Uterine rupture Microglossia Megalencephaly Short middle phalanx of finger Short femoral neck Tapered finger Delayed eruption of teeth Hypodontia Dental malocclusion Short metacarpal Abnormality of the metaphysis Short phalanx of finger Joint contracture of the hand Hyperextensible skin Metaphyseal widening Irregular vertebral endplates Demyelinating peripheral neuropathy Broad femoral neck Flat capital femoral epiphysis Flattened epiphysis Thenar muscle atrophy Moderately short stature Cigarette-paper scars Absent palmar crease Tremor Abnormality of the dentition Behavioral abnormality Dystonia Platyspondyly Chronic constipation Anxiety Abnormality of the foot Cerebellar atrophy Autism Autistic behavior Everted lower lip vermilion Overfolded helix Cupped ear Peripheral neuropathy Areflexia Constipation Upslanted palpebral fissure Gait ataxia Poor speech Syringomyelia Smooth philtrum Unsteady gait Distal sensory impairment Wide nose Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Absent speech Facial asymmetry Anophthalmia Microphthalmia Slow-growing hair Small posterior fossa Loose anagen hair Nystagmus Cleft palate Cataract Myopia Respiratory insufficiency Respiratory distress Intellectual disability, severe Micropenis Arnold-Chiari type I malformation Narrow mouth Photophobia Coloboma Retinopathy Astigmatism Retinal dystrophy Microcornea Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Deep palmar crease Nasal speech Gliosis Atrial septal defect Delayed myelination Thick lower lip vermilion Pointed chin Sparse eyebrow Long fingers Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Ventricular septal defect Short neck Hyperactivity Relative macrocephaly Polyhydramnios High forehead Hypertrophic cardiomyopathy Attention deficit hyperactivity disorder Pulmonic stenosis Ichthyosis Webbed neck Eczema Sparse scalp hair Long eyelashes Hyperpigmentation of the skin Unexplained fevers


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