Downslanted palpebral fissures, and Thin skin

Diseases related with Downslanted palpebral fissures and Thin skin

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

Top matches:

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS 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

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

Other less relevant matches:

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

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

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Thin skin

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Joint laxity

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Osteopenia Hyperextensible skin Inguinal hernia Muscular hypotonia Generalized hypotonia Global developmental delay Arachnodactyly Bruising susceptibility Depressed nasal bridge Growth delay Flexion contracture Postnatal growth retardation Blue sclerae Pectus excavatum Short nose Hearing impairment Prominent forehead Hiatus hernia Umbilical hernia Thin upper lip vermilion Vomiting Strabismus Retrognathia Posteriorly rotated ears Hernia Low-set ears Myopia Feeding difficulties Brachydactyly Narrow mouth Motor delay Brachycephaly Talipes equinovarus Ventriculomegaly Long face Epicanthus Joint hyperflexibility Pectus carinatum Atrial septal defect Joint dislocation Malar flattening Hirsutism Osteoporosis Carious teeth Wide nasal bridge Proptosis Sparse hair Intellectual disability, severe Hyperkeratosis High forehead Delayed speech and language development Seizures Fragile skin Cutis laxa Gastroesophageal reflux Macrocephaly Failure to thrive Convex nasal ridge Scarring Blepharophimosis Pes planus Joint hypermobility Macrotia Long philtrum Coarctation of aorta Anteverted nares

Rare Symptoms - Less than 30% cases

Generalized hirsutism Growth hormone excess Dry skin Atrophic scars Dehydration Thin vermilion border Low anterior hairline Low posterior hairline Recurrent pneumonia Bilateral talipes equinovarus Abnormality of the fingernails Respiratory distress Soft, doughy skin Soft skin Absent speech Clinodactyly of the 5th finger Prolonged bleeding time Delayed cranial suture closure Epiphora Smooth philtrum Wide anterior fontanel Large fontanelles Hyperglycemia Hypertrichosis Respiratory failure Thick vermilion border Short palm Fine hair Pulmonic stenosis Dental crowding Ventricular hypertrophy Relative macrocephaly Coarse hair Recurrent infections Microcephaly Dolichocephaly Mitral valve prolapse Cryptorchidism Aortic root aneurysm Abnormality of the sternum Short neck Constipation Camptodactyly of finger Tapered finger Hypodontia Bifid uvula Dental malocclusion Intestinal malrotation Dermal translucency Microcornea Ventricular septal defect Short phalanx of finger High, narrow palate Craniosynostosis Patent ductus arteriosus Dilatation Telecanthus Short philtrum Broad forehead Thick eyebrow Facial asymmetry Cleft palate Talipes Arterial tortuosity Attention deficit hyperactivity disorder Anxiety Hypoglycemia Tall stature Hyperactivity Microretrognathia Narrow palate Pneumothorax Hyperalgesia Endocarditis Loose anagen hair Distal arthrogryposis Abnormal location of ears Superior pectus carinatum Abnormality of the testis Abnormality of the mouth Abnormality of the intervertebral disk Abnormality of the pulmonary artery Low hanging columella Fragile nails Flat forehead Diastasis recti Abnormality of refraction Generalized joint laxity Hypomagnesemia Abnormal anterior chamber morphology Thickened helices Abnormally large globe Decreased palmar creases Enlarged cisterna magna Peripheral pulmonary artery stenosis Slow-growing hair Talipes valgus Ecchymosis Redundant neck skin Broad fingertip Abnormality of the duodenum Sparse scalp hair Hypocalcemia Abnormality of cardiovascular system morphology Hoarse voice Delayed skeletal maturation Hyperpigmentation of the skin Cafe-au-lait spot Hypothyroidism Mitral regurgitation Thick lower lip vermilion Infantile muscular hypotonia Eczema Cyanosis Dandy-Walker malformation Wide intermamillary distance Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Growth hormone deficiency Webbed neck Abnormal palate morphology Arnold-Chiari malformation Abnormality of the elbow Aplasia/Hypoplasia of the eyebrow Broad neck Ichthyosis Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Freckling Neurodevelopmental delay Abnormality of coagulation Right bundle branch block Cardiomyopathy Hypoplastic toenails Overfolded helix Failure to thrive in infancy Patent foramen ovale Nasal speech Deep philtrum Optic nerve hypoplasia Hydrocephalus Increased intracranial pressure Hypotrichosis Broad-based gait Abnormality of the nasal bridge Astigmatism Acanthosis nigricans Nephrocalcinosis Narrow face Preauricular skin tag Sparse and thin eyebrow Insulin resistance Epidermal acanthosis Optic disc pallor Abdominal distention Single transverse palmar crease Postaxial polydactyly Iris coloboma Coloboma Polycystic ovaries Abnormality of the pinna Hyperlordosis Feeding difficulties in infancy Abnormality of the kidney Muscular hypotonia of the trunk Proteinuria Abnormality of the nervous system Neonatal hypotonia Conductive hearing impairment Coarse facial features Mandibular prognathia Polydactyly Diabetes mellitus Abnormality of the outer ear Poor suck Hypoplasia of the corpus callosum Long penis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Hypocholesterolemia Thick nail Precocious puberty Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Ketoacidosis Bell-shaped thorax Prematurely aged appearance Abnormality of the thyroid gland Metatarsus adductus Neonatal respiratory distress Clitoral hypertrophy Sparse eyebrow Upslanted palpebral fissure Intrauterine growth retardation Spasticity Wide nose Long eyelashes Broad thumb Hemiparesis Short palpebral fissure Intellectual disability, profound Decreased testicular size Febrile seizures Nail dysplasia Prominent nose Ectodermal dysplasia Sleep disturbance Downturned corners of mouth Bulbous nose Oligodontia Poor speech Abnormality of the foot Abnormality of the cerebral white matter Prominent nasal bridge Camptodactyly Aggressive behavior Autism Hyperhidrosis Midface retrusion Behavioral abnormality Abnormality of the dentition Frontal bossing Hyperreflexia Drooling Tented upper lip vermilion Peripheral neuropathy Excessive salivation Nystagmus Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Generalized osteoporosis Dermal atrophy Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Narrow nose Abnormality of the periventricular white matter Restlessness Abnormality of digit Long nose Myopathic facies Overlapping toe Abnormality of dental morphology Absent septum pellucidum Rectal prolapse Abnormality of the coagulation cascade Hepatitis Systemic lupus erythematosus Reduced bone mineral density Bilateral single transverse palmar creases Skin ulcer Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Asthma Osteomyelitis Palmoplantar keratoderma Genu valgum Pruritus Papule Skin rash Erythema Elevated hepatic transaminase Hepatosplenomegaly Recurrent respiratory infections Obesity Thrombocytopenia Psoriasiform dermatitis Increased antibody level in blood Splenomegaly Crusting erythematous dermatitis Sepsis Everted lower lip vermilion Micromelia Hip dislocation Wide mouth Joint stiffness Severe short stature Edema Recurrent cystitis Diffuse telangiectasia Facial hirsutism Petechiae Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Abnormality of metabolism/homeostasis Intellectual disability, mild Hip dysplasia Skeletal dysplasia Prominent superficial veins Irregular vertebral endplates Short femoral neck Metaphyseal widening Joint contracture of the hand Abnormality of the metaphysis Waddling gait Short metacarpal Delayed eruption of teeth Platyspondyly Auditory hallucinations Flat capital femoral epiphysis Xanthelasma Long foot Thoracolumbar scoliosis Narrow nasal bridge Prominent supraorbital ridges Pointed chin Hallucinations Progressive neurologic deterioration Cerebral calcification Overgrowth Depressivity Broad femoral neck Flattened epiphysis Diarrhea Dilatation of the cerebral artery Hepatomegaly Visual impairment Anemia Uterine rupture Arterial dissection Dural ectasia Thoracic aortic aneurysm Spondylolisthesis Aortic dissection Atypical scarring of skin Subarachnoid hemorrhage Thenar muscle atrophy Striae distensae Emphysema Aortic aneurysm Ectopia lentis Bicuspid aortic valve Cardiac arrest Abnormal bleeding Oral cleft Absent palmar crease Cigarette-paper scars Moderately short stature Premature birth Microdontia Cerebral hemorrhage Galactorrhea Decreased fertility in males Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Decreased circulating ACTH level Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Oculomotor nerve palsy Fourth cranial nerve palsy Neoplasm Abnormal thrombosis Bladder diverticulum Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Male hypogonadism Pulmonary artery stenosis Tracheomalacia Keratoconus Blurred vision Impotence Cranial nerve VI palsy Generalized arterial tortuosity Hyperinsulinemia Nephrotic syndrome Bilateral cryptorchidism Congenital contracture Pterygium Recurrent skin infections Adducted thumb Horseshoe kidney Exotropia Nephrolithiasis Recurrent urinary tract infections High myopia Retinal detachment Curved fingers Arthrogryposis multiplex congenita Protruding ear Hydronephrosis Kyphoscoliosis Glaucoma Abnormality of the skeletal system Muscle weakness Aortic tortuosity Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Heart murmur Easy fatigability Limb undergrowth Osteomalacia Premature rupture of membranes Excessive wrinkled skin Femoral hernia Avascular necrosis of the capital femoral epiphysis Delayed closure of the anterior fontanelle Generalized edema Echolalia Esophagitis Gingival bleeding Palpebral edema Abnormal joint morphology Enlarged naris Aphasia Dysphasia Open bite Rickets Intracranial hemorrhage Redundant skin Mutism Coxa vara Coxa valga Short toe Gingival overgrowth Blepharochalasis Gingival hyperkeratosis Ischemic stroke Hypotension Aortic regurgitation Short chin Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Gynecomastia Diplopia Telangiectasia Congenital diaphragmatic hernia Amenorrhea Progressive visual loss Vertigo Spontaneous neonatal pneumothorax Delayed puberty Stroke Pallor Headache Blindness Fatigue Hypertension Abnormality of primary molar morphology Recurrent mandibular subluxations Frontal open bite Abnormality of subcutaneous fat tissue Onychauxis


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