Downslanted palpebral fissures, and Prominent nose

Diseases related with Downslanted palpebral fissures and Prominent nose

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


Top matches:

High match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

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Other less relevant matches:

High match DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA


Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

High match RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION


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

High match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

High match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

High match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

High match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

High match BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME


Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Prominent nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Microcephaly Abnormal facial shape Wide nose Scoliosis Failure to thrive Retrognathia Epicanthus High palate Muscular hypotonia Strabismus Hearing impairment Pointed chin Myopia Growth delay Low hanging columella Broad thumb Generalized hypotonia Broad hallux Ptosis Obesity Convex nasal ridge

Rare Symptoms - Less than 30% cases


High forehead Synophrys Telecanthus Broad forehead Full cheeks Short neck Short columella Underdeveloped nasal alae Congestive heart failure Delayed gross motor development Depressed nasal tip Short stature Dental malocclusion Long nose Delayed speech and language development Sensorineural hearing impairment Downturned corners of mouth Autistic behavior Syndactyly Highly arched eyebrow Autism Long philtrum Wide mouth Short philtrum Malar flattening Long face Cataract Low-set ears Feeding difficulties Generalized tonic-clonic seizures Pseudoepiphysis of the thumb Absent nail of hallux Hypoplastic thumbnail Nystagmus Anemia Brachydactyly Hypertension Hypothyroidism Depressed nasal bridge Flat forehead Behavioral abnormality Short nose Brachycephaly Micropenis Tented philtrum Thick nasal alae Pseudoepiphyses Anteverted nares Thick vermilion border Intellectual disability, severe Wide intermamillary distance Small nail Open mouth Short thumb Low anterior hairline Intellectual disability, progressive Adducted thumb Neonatal hypotonia Frontal upsweep of hair Myopathic facies Anonychia Global brain atrophy Cerebral atrophy Poor eye contact Short distal phalanx of finger High anterior hairline Tapered finger Small thenar eminence Absent speech Decreased skull ossification Prominent nasal bridge Prominent metopic ridge Low posterior hairline Pachygyria Large fontanelles Lissencephaly Mutism Trigonocephaly Hydroureter Delayed cranial suture closure Aphasia Dysphasia Long palpebral fissure Palpebral edema Webbed neck Transient ischemic attack Heterochromia iridis Echolalia Optic nerve coloboma Abnormality of the upper urinary tract Subcortical cerebral atrophy Macrogyria Duplication of thumb phalanx Retinoschisis Cerebral cortical hemiatrophy Osteochondrosis Specific learning disability Microcornea Delayed puberty Mild myopia Single transverse palmar crease Broad nasal tip Abnormality of the genital system Wormian bones Cutaneous syndactyly Sparse eyebrow Nephroblastoma Self-injurious behavior Aniridia Turricephaly Exostoses Sparse lateral eyebrow Iris coloboma Craniofacial dysostosis Congenital ptosis Parietal foramina Multiple exostoses Cutaneous syndactyly between fingers 2 and 5 Cerebral cortical atrophy Skeletal dysplasia Coarse facial features Hydronephrosis Joint stiffness Thin vermilion border Polymicrogyria Posterior helix pit Pugilistic facies Pes valgus Congenital sensorineural hearing impairment Perimembranous ventricular septal defect Right aortic arch Generalized neonatal hypotonia Abnormality of the pinna Microtia Hypodontia Microdontia Tall stature Widely spaced teeth Abnormality of the outer ear High hypermetropia Epiphyseal stippling Increased number of teeth Arachnoid cyst Skin tags Abnormal cranial nerve morphology Conical tooth Anteverted ears Profound sensorineural hearing impairment Microtia, first degree Cochlear aplasia Aplasia of the inner ear Absent stapes Secundum atrial septal defect Decreased fetal movement Clinodactyly of the 5th finger Smooth philtrum Microphthalmia Visual loss Ectopia lentis Iris atrophy Large beaked nose Posterior synechiae of the anterior chamber Thin upper lip vermilion Aggressive behavior Intellectual disability, moderate Dolichocephaly Short chin Round face Truncal obesity Polyphagia Overweight Broad eyebrow Long eyebrows Hepatomegaly Ventricular septal defect Atrial septal defect Areflexia Severe global developmental delay Pulmonic stenosis Recurrent infections Abnormality of the kidney Overbite Intrauterine growth retardation Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Camptodactyly of toe Progressive pes cavus Broad nail Marked muscular hypertrophy Dislocation of toes Cryptorchidism Cognitive impairment Intellectual disability, mild Broad palm Delayed skeletal maturation Postnatal growth retardation Carious teeth Genu valgum Hirsutism Premature birth Intestinal malrotation Long eyelashes Narrow palate Overlapping toe Preeclampsia Eclabion Hallux valgus Feeding difficulties in infancy Elevated serum creatine phosphokinase Sleep disturbance Renal agenesis Hypoplastic left heart Polysplenia Facial hemangioma Facial hypertrichosis Nevus sebaceous Abnormality of the hairline Cardiomyopathy Kyphosis Pes cavus Skeletal muscle hypertrophy Posteriorly rotated ears Difficulty walking Hypertrophic cardiomyopathy Hip dislocation Everted lower lip vermilion Ventricular hypertrophy Mitral regurgitation Joint contracture of the hand Congenital hip dislocation Prominent supraorbital ridges Abnormality of the voice Euryblepharon



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