Downslanted palpebral fissures, and Nevus

Diseases related with Downslanted palpebral fissures and Nevus

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

Top matches:

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

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

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.

PROTEUS-LIKE SYNDROME Is also known as cohen-hayden syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about PROTEUS-LIKE SYNDROME

Other less relevant matches:

RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION Is also known as rubinstein-taybi deletion syndrome|rsts deletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Medium match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Medium match MEVALONIC ACIDURIA

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Nevus

Symptoms // Phenotype % cases
Strabismus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Global developmental delay Generalized hypotonia Hydrocephalus Optic atrophy Microcephaly Failure to thrive Dolichocephaly Cleft palate Convex nasal ridge Midface retrusion Brachycephaly Posteriorly rotated ears Conductive hearing impairment Craniosynostosis Choanal atresia High palate Low-set ears Acanthosis nigricans Proptosis Arnold-Chiari malformation Melanocytic nevus Turricephaly Choanal stenosis Cloverleaf skull Craniofacial dysostosis Scoliosis Epicanthus Cataract

Rare Symptoms - Less than 30% cases

Increased intracranial pressure Muscular hypotonia Visual impairment Obesity Mandibular prognathia Micrognathia Hearing impairment Frontal bossing Splenomegaly Abnormality of the skull Hearing abnormality Respiratory insufficiency Malar flattening Myopia Narrow palate High forehead Umbilical hernia Respiratory distress Cryptorchidism Abnormal sacrum morphology Hypoplasia of the maxilla Dental malocclusion Epidermal acanthosis Anteverted nares Low-set, posteriorly rotated ears Triangular face Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Telecanthus Pointed chin Intrauterine growth retardation Depressed nasal bridge Abnormal cardiac septum morphology Pain Anemia Hepatomegaly Fever Thrombocytopenia Nystagmus Edema Myopathy Cerebellar atrophy Vomiting Diarrhea Cerebral atrophy Deep palmar crease Elevated serum creatine phosphokinase Delayed skeletal maturation Abdominal pain Ataxia Acidosis Kyphoscoliosis Arthralgia Hepatosplenomegaly Hypoglycemia Elevated hepatic transaminase Abnormality of the nervous system Abnormality of the liver Skin rash Leukemia Malabsorption Cerebral cortical atrophy Narrow internal auditory canal Cartilaginous trachea Atresia of the external auditory canal Headache Cerebellar hypoplasia Prominent forehead Cleft lip Delayed puberty Iris coloboma Amenorrhea Primary amenorrhea Dental crowding Amblyopia Conjunctivitis Torticollis Sleep apnea Hypopigmented skin patches Trigonocephaly Multiple suture craniosynostosis Keratitis Gonadal dysgenesis Syringomyelia Scaphocephaly Shallow orbits Papilledema Coronal craniosynostosis Gonadoblastoma Sagittal craniosynostosis Lambdoidal craniosynostosis Abnormality of the cervical spine Short upper lip Abnormality of the nasopharynx Dysgerminoma Lymphadenopathy Metabolic acidosis Lactic acidosis Neonatal respiratory distress Abnormality of the foot Facial asymmetry Abnormality of movement Oral cleft Long face Pulmonary hypoplasia Limitation of joint mobility Webbed neck Hypoplasia of penis Low posterior hairline Spina bifida occulta Scrotal hypoplasia Pterygium Aortic aneurysm Vertebral segmentation defect Finger syndactyly Abnormality of the sternum Aplasia/Hypoplasia of the skin Abnormal eyelid morphology Symphalangism affecting the phalanges of the hand Aplasia/Hypoplasia of the abdominal wall musculature Rib fusion Abnormal aortic valve morphology Abnormality of the tongue Multiple pterygia Popliteal pterygium Antecubital pterygium Axillary pterygium Abnormality of skeletal morphology Morphological abnormality of the gastrointestinal tract Arthrogryposis multiplex congenita Camptodactyly of finger Retinal dystrophy Extramedullary hematopoiesis Sensorineural hearing impairment Progressive cerebellar ataxia Aciduria Underdeveloped nasal alae Blue sclerae Clumsiness Large fontanelles Leukocytosis Petechiae Severe failure to thrive Nuclear cataract Organic aciduria Cholestatic liver disease Agenesis of cerebellar vermis Normocytic anemia Hypogonadism Hypoplastic anemia Glutathione synthetase deficiency Therapeutic abortion Chronic leukemia Morbilliform rash Fluctuating hepatomegaly Fluctuating splenomegaly Normocytic hypoplastic anemia Cognitive impairment Skeletal muscle atrophy Gait disturbance Abnormality of cardiovascular system morphology Pectus excavatum Inguinal hernia Abnormality of the dentition Prominent umbilicus Spasticity Facial hemangioma Recurrent infections Clinodactyly of the 5th finger Abnormality of the kidney Feeding difficulties in infancy Sleep disturbance Prominent nose Renal agenesis Small hand Broad thumb Broad hallux Hypoplastic left heart Low hanging columella Polysplenia Facial hypertrichosis Narrow forehead Nevus sebaceous Abnormality of the hairline Feeding difficulties High, narrow palate Brachydactyly Smooth philtrum Synophrys Abnormality of the pinna Renal insufficiency Postnatal growth retardation Thin upper lip vermilion Pes planus Clinodactyly Dry skin Broad nasal tip Broad-based gait Migraine Hyperostosis Malar rash Nevus flammeus of the forehead Decreased head circumference Severe intrauterine growth retardation Macrocephaly Sacral dimple Short chin Hemivertebrae Skeletal dysplasia Decreased body weight Retinal detachment Hemangioma Polycystic ovaries Open bite Bronchogenic cyst Irregular hyperpigmentation Exostoses Genu recurvatum Heterochromia iridis Communicating hydrocephalus Lower limb asymmetry Abnormal pupil morphology Venous insufficiency Epibulbar dermoid Subcutaneous lipoma Epidermal nevus Shagreen patch Abnormality of the parathyroid gland Thymus hyperplasia Hypopigmentation of the skin Wide nasal bridge Preauricular skin furrow Natal tooth Palmoplantar keratoderma Overgrowth Small nail Abnormality of the face Subcutaneous nodule Gingival overgrowth Abnormality of the nail Kyphosis Abnormality of vision Reduced number of teeth Redundant skin Bifid scrotum Limited elbow extension Anteriorly placed anus Abnormality of the eye Underdeveloped supraorbital ridges Skin tags Hypoplasia of the zygomatic bone Breech presentation Abnormality of the pancreas Aplasia/Hypoplasia of the earlobes Redundant neck skin Thickened helices Oxycephaly Visceral angiomatosis Palmoplantar cutis laxa Macrodontia Prominent scrotal raphe Palmoplantar cutis gyrata Prominent nasal bridge Dilatation Short metacarpal Everted lower lip vermilion Delayed speech and language development Abnormal form of the vertebral bodies Growth delay Abnormal palate morphology Nevus flammeus Abnormality of the metacarpal bones Sparse eyebrow Laryngomalacia Glomerulonephritis Tented upper lip vermilion Aplasia/Hypoplasia of the cerebellum Proportionate short stature Microcornea Congenital cataract Hypospadias Inflammatory abnormality of the eye Short philtrum Brachyturricephaly Bicoronal synostosis Membranous nephropathy Short uvula Schizophrenia Bipolar affective disorder Sparse hair Hypertension Hydronephrosis Agenesis of corpus callosum Narrow mouth Macrotia Absence of labia majora


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