Downslanted palpebral fissures, and Thick lower lip vermilion

Diseases related with Downslanted palpebral fissures and Thick lower lip vermilion

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

Top matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

High match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

High match ADNP SYNDROME

ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Thick lower lip vermilion

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Thick lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gastroesophageal reflux Hypertelorism Feeding difficulties Posteriorly rotated ears Global developmental delay Broad forehead Delayed speech and language development Strabismus Low-set ears Long philtrum Seizures Generalized hypotonia Macrocephaly Depressed nasal bridge Growth delay Joint laxity Hernia Absent speech Thin upper lip vermilion Autistic behavior Anxiety Narrow mouth Sparse scalp hair Epicanthus Atrial septal defect Abnormality of the sternum Ptosis Hyperactivity Broad nasal tip Ataxia Intrauterine growth retardation Micrognathia

Rare Symptoms - Less than 30% cases

Tremor Failure to thrive Microcephaly Pointed chin Talipes equinovarus Cognitive impairment Motor delay Coarse facial features Microtia Neonatal hypotonia Plagiocephaly Stereotypy Small hand Attention deficit hyperactivity disorder Prominent forehead Short nose Large forehead Aggressive behavior Constipation Brachydactyly Anteverted nares Palpebral edema Single transverse palmar crease Thick vermilion border Hirsutism Joint hypermobility Sparse hair Prolonged bleeding time Retrognathia High anterior hairline Muscular hypotonia Hearing impairment Overgrowth Deeply set eye Short neck Short philtrum Abnormality of cardiovascular system morphology Webbed neck Cubitus valgus Curly hair Long face Scoliosis Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Sparse and thin eyebrow Intellectual disability, mild Sparse eyebrow Gait ataxia Pulmonic stenosis Short ear Mesiodens Narrow nasal tip Hippocampal atrophy Hypoplastic hippocampus Abnormality of coagulation Segmental myoclonic seizures Cataract Visual impairment Poor motor coordination Respiratory distress Recurrent infections Obesity Abnormal heart morphology Inguinal hernia Dry skin Wide nasal bridge Cafe-au-lait spot Abnormal social behavior Bulbous nose Edema Cerebellar atrophy Brachycephaly Cerebellar hypoplasia Multiple lentigines Cerebral cortical atrophy Protruding ear Abnormal pyramidal sign Dysmetria Unsteady gait Wide nose Nonprogressive cerebellar ataxia Generalized myoclonic seizures Memory impairment Intention tremor Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Muscular hypotonia of the trunk Abnormal cortical gyration Impaired social interactions Positive Romberg sign Autism Smooth philtrum Coloboma Dandy-Walker malformation High forehead Kyphoscoliosis Conductive hearing impairment Wide mouth Short distal phalanx of finger High, narrow palate Short foot Tapered finger Delayed eruption of teeth Hip dysplasia Small nail Clinodactyly Wormian bones Finger clinodactyly Narrow palpebral fissure Deep philtrum Abnormality of the hand Short middle phalanx of finger Infantile spasms Arachnoid cyst Tics Periventricular leukomalacia Diaphragmatic eventration Clinodactyly of the 5th finger Pectus excavatum Dolichocephaly Bilateral ptosis Hypermetropia Nystagmus Astigmatism Iris coloboma Growth hormone deficiency Broad thumb Mandibular prognathia Amblyopia Exotropia Cerebral visual impairment Widely spaced teeth Language impairment Midface retrusion Obsessive-compulsive behavior Narrow nasal bridge Long palpebral fissure Inverted nipples Eyelid coloboma Generalized neonatal hypotonia Juvenile cataract Microtia, first degree Cleft palate Frontal bossing Hypoplasia of the corpus callosum Dysarthria Generalized osteoporosis Infra-orbital fold Micropenis Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Neurofibromas Large for gestational age Optic nerve hypoplasia Accelerated skeletal maturation Hypospadias Delayed skeletal maturation Dyspnea Speech apraxia Tall stature Prominent nasal bridge Narrow chest Hypoplasia of the maxilla Triangular face Short ribs Recurrent pneumonia Coxa valga Coxa vara Microretrognathia Long fingers Waddling gait Laryngomalacia Behavioral abnormality Blue irides Pectus excavatum of inferior sternum Wide intermamillary distance Dental malocclusion Polyhydramnios Ventricular septal defect Aplasia/Hypoplasia of the optic nerve Abnormality of the skeletal system Ventriculomegaly Abnormality of the dentition Dystonia Delayed myelination Malar flattening Cranial asymmetry Hypothyroidism Abnormal pulmonary valve morphology Unilateral cryptorchidism Abnormality of the pinna Craniosynostosis Abnormality of the cerebral white matter Facial asymmetry Gliosis Scrotal hypoplasia Genu varum Upper eyelid edema Redundant skin Hypotelorism Everted lower lip vermilion Narrow forehead High myopia Decreased body weight Bronchiectasis Gingival overgrowth Hypergonadotropic hypogonadism Cutis laxa Hyperextensible skin Increased susceptibility to fractures Prominent supraorbital ridges Aortic aneurysm Premature ovarian insufficiency High pitched voice Macrotia Abnormality of the vasculature Bilateral cryptorchidism Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Bruising susceptibility Ichthyosis Growth abnormality Breast hypoplasia Clitoral hypertrophy Short thorax Thoracic hypoplasia Slender long bone Tracheomalacia Severe postnatal growth retardation Calvarial skull defect Sparse axillary hair Sparse pubic hair Patellar aplasia Aplasia/Hypoplasia of the patella Large hands Bronchomalacia Hypoplastic labia minora Birth length less than 3rd percentile Absent sternal ossification Pectus carinatum Dilatation Alopecia Osteoporosis Hypogonadism Umbilical hernia Pes planus Testicular torsion


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