Downslanted palpebral fissures, and Hypoplasia of the maxilla

Diseases related with Downslanted palpebral fissures and Hypoplasia of the maxilla

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


Top matches:

High match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

High match ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN


The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN

High match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

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Other less relevant matches:

High match 20P12.3 MICRODELETION SYNDROME


20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


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

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

High match MEIER-GORLIN SYNDROME 3; MGORS3


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

High match SYNDROMIC MICROPHTHALMIA TYPE 5


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

High match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


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

High match PFEIFFER SYNDROME


Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Narrow mouth Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Malar flattening Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Cleft palate Midface retrusion Conductive hearing impairment Hearing impairment Failure to thrive Posteriorly rotated ears Global developmental delay Frontal bossing Arnold-Chiari malformation Choanal atresia Hydrocephalus Microtia Intellectual disability Brachycephaly Talipes equinovarus Epicanthus Agenesis of corpus callosum Triangular face Microcephaly Depressed nasal bridge Abnormal facial shape

Rare Symptoms - Less than 30% cases


Cryptorchidism Strabismus Brachydactyly Broad thumb Long philtrum Ventriculomegaly Micropenis Microretrognathia Growth abnormality Scoliosis High forehead Feeding difficulties Seizures Craniosynostosis Aglossia Proboscis Mandibular aplasia Microglossia Laryngomalacia Growth delay Large fontanelles Syndactyly Cataract Delayed speech and language development Broad forehead Joint laxity Deeply set eye Myopia Convex nasal ridge Abnormality of the dentition Microphthalmia Dental crowding Gastroesophageal reflux Mandibular prognathia Delayed skeletal maturation Toe syndactyly Respiratory insufficiency Microcornea Dental malocclusion Bronchomalacia Intrauterine growth retardation Tracheomalacia Proptosis Atresia of the external auditory canal Atrial septal defect Epidermal acanthosis Wide nose Telecanthus Clinodactyly Retrognathia Short nose Bicoronal synostosis Craniofacial dysostosis Cloverleaf skull Choanal stenosis Respiratory distress Brachyturricephaly Wide nasal bridge Acanthosis nigricans Ptosis Hypotelorism Birth length less than 3rd percentile Absent sternal ossification Broad phalanx Generalized hypotonia Nystagmus Elbow ankylosis Long hallux Short middle phalanx of toe Humeroradial synostosis Anterior plagiocephaly Oxycephaly Tracheal stenosis Coronal craniosynostosis Narrow chest Shallow orbits Ankylosis Intellectual disability, severe Hypoplastic labia minora Thick lower lip vermilion Genu varum Severe postnatal growth retardation Scrotal hypoplasia Shortening of all middle phalanges of the fingers Clitoral hypertrophy Short thorax Thoracic hypoplasia Slender long bone Coxa vara Coxa valga Aplasia/Hypoplasia of the patella Calvarial skull defect Sparse axillary hair Photophobia Recurrent pneumonia Sparse pubic hair Patellar aplasia Breast hypoplasia Short ribs Hypothyroidism Retinal dystrophy Scarring Melanocytic nevus Abnormal sacrum morphology Inflammatory abnormality of the eye Visual impairment Turricephaly Optic atrophy Renal insufficiency Proportionate short stature Aplasia/Hypoplasia of the cerebellum Glomerulonephritis Myopic astigmatism Increased intracranial pressure Abnormality of the metacarpal bones Abnormal palate morphology Dry skin Hypopigmentation of the skin Nevus Migraine Short metacarpal Abnormal form of the vertebral bodies Membranous nephropathy Short uvula Coloboma Short middle phalanx of finger Retinopathy Natal tooth Astigmatism Broad hallux Pigmentary retinopathy Preaxial polydactyly Short thumb Optic nerve hypoplasia Anophthalmia Posterior embryotoxon Macular scar Otitis media Hypoplasia of the fovea Retinal dysplasia Finger syndactyly Polydactyly Central hypothyroidism Dilatation High palate Ectopic posterior pituitary Prominent nasal bridge Thin vermilion border Dyspnea Intestinal malrotation Broad finger Mandibulofacial dysostosis Bilateral choanal atresia Decreased head circumference Pretragal ectopia Abnormal heart morphology Polyhydramnios Abnormality of the eye Anal atresia Pulmonary hypoplasia Situs inversus totalis Anotia Holoprosencephaly Abnormality of the outer ear Transposition of the great arteries Stenosis of the external auditory canal Hyperplasia of the maxilla Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Synotia Muscular hypotonia Acetabular dysplasia Femoral bowing Pectus carinatum Congenital sensorineural hearing impairment Sensorineural hearing impairment Flexion contracture Blepharophimosis Camptodactyly of finger Flat face High, narrow palate Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Ulnar deviation of finger Flared metaphysis Abnormality of the wrist Ulnar deviation of the hand Lacrimal duct atresia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Aplasia/Hypoplasia involving the nose Limited wrist movement Patent ductus arteriosus Macrotia Thick vermilion border Decreased body weight Macrocephaly Full cheeks Hypospadias Spinal cord compression Short palpebral fissure Fine hair Sparse scalp hair Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Mild global developmental delay Underdeveloped nasal alae Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Motor delay Overgrowth Delayed eruption of teeth Broad hallux phalanx Bulbous nose Wolff-Parkinson-White syndrome Thickened helices Abnormality of the skeletal system Prominent forehead Osteoporosis Osteopenia Postnatal growth retardation Protruding ear Hip dislocation Joint hypermobility Recurrent fractures Short foot Blue sclerae Bowing of the long bones Congenital hip dislocation Cutis laxa Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Small hand Cartilaginous trachea



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