Downslanted palpebral fissures, and Dolichocephaly

Diseases related with Downslanted palpebral fissures and Dolichocephaly

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

Top matches:

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Low-set ears High palate Scaphocephaly Short stature Epicanthus Mandibular prognathia Macrocephaly Long face Ventricular septal defect Myopia Frontal bossing

Rare Symptoms - Less than 30% cases

Cognitive impairment Cryptorchidism Pointed chin Atrial septal defect Feeding difficulties Cafe-au-lait spot Strabismus Abnormal facial shape Smooth philtrum Depressed nasal bridge Anteverted nares Pectus excavatum Hypertrophic cardiomyopathy Webbed neck Generalized hypotonia Prominent forehead Attention deficit hyperactivity disorder Wide nasal bridge Aggressive behavior Thin upper lip vermilion Trigonocephaly Brachycephaly Delayed speech and language development Splenomegaly Deep philtrum Epibulbar dermoid Venous insufficiency Pterygium Abnormal pupil morphology Myeloproliferative disorder Cystic hygroma Sagittal craniosynostosis Pulmonic stenosis Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Scoliosis Lower limb asymmetry Mitral valve prolapse Patent ductus arteriosus Leukemia Supernumerary nipple Thin vermilion border Thymus hyperplasia Bulbous nose Abnormality of the parathyroid gland Shagreen patch Epidermal nevus Prominent metopic ridge Polyhydramnios Low hanging columella Square face Subcutaneous lipoma Short nose Abnormality of the skeletal system Posteriorly rotated ears Pain Heterochromia iridis Hyporeflexia Oligodontia Wide intermamillary distance Hip dysplasia Open mouth Sacral dimple Bicuspid aortic valve Retinal detachment Overlapping toe Underdeveloped nasal alae Long palpebral fissure Inverted nipples Thickened nuchal skin fold Sparse lateral eyebrow Skeletal dysplasia Wide nasal ridge Cataract Prominent nasal bridge Downturned corners of mouth Communicating hydrocephalus Genu recurvatum Hydrocephalus Constipation Hyperactivity Polydactyly Abnormal cardiac septum morphology Microtia Neurological speech impairment Hemangioma Exostoses Irregular hyperpigmentation Poor speech Open bite Hyperostosis Polycystic ovaries Postaxial polydactyly Astigmatism Sparse hair Camptodactyly Polyphagia Intellectual disability, moderate Short philtrum Wide nose Prominent nose Short chin Truncal obesity Overweight Malar flattening Broad eyebrow Long eyebrows Motor delay Intellectual disability, mild Absent speech Autism EEG abnormality Obesity Microcephaly Dental crowding Increased number of teeth Headache Hypermetropia Narrow forehead Hypotelorism Wormian bones Triphalangeal thumb Visual field defect Turricephaly Unicoronal synostosis Coronal craniosynostosis Cleft soft palate Cloverleaf skull Anterior plagiocephaly Brachyturricephaly Metopic synostosis Bicoronal synostosis Synophrys Narrow palate Inguinal hernia Sparse eyelashes Abnormality of the kidney Brachydactyly Hematuria Ectodermal dysplasia Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyebrow Abnormality of the dentition Nephritis Hypoplastic toenails Tubulointerstitial nephritis Posterior fossa cyst Hypoplasia of the corpus callosum Hernia Hypospadias Proteinuria Micrognathia Short neck Clinodactyly of the 5th finger Dry skin Thick lower lip vermilion Cubitus valgus Abnormality of the sternum Curly hair Multiple lentigines Clinodactyly Pneumonia Microretrognathia Retrognathia Hepatosplenomegaly Anxiety Broad nasal tip Stereotypy Recurrent pneumonia Finger clinodactyly Bronchogenic cyst


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