Depressed nasal bridge, and Upslanted palpebral fissure

Diseases related with Depressed nasal bridge and Upslanted palpebral fissure

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Upslanted palpebral fissure that can help you solving undiagnosed cases.


Top matches:

High match PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

High match PARIETAL FORAMINA 2; PFM2


Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

High match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

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Other less relevant matches:

High match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

High match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

High match AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

High match INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY


Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

High match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Upslanted palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Strabismus Generalized hypotonia Microcephaly Growth delay Hyperactivity Brachycephaly Abnormal facial shape Low-set ears Micrognathia Aggressive behavior

Rare Symptoms - Less than 30% cases


Nystagmus High palate Low anterior hairline Esotropia Delayed myelination Telecanthus Downturned corners of mouth Anteverted nares Failure to thrive Hypogonadism Scoliosis Long philtrum Poor speech Thin upper lip vermilion Synophrys Behavioral abnormality Delayed speech and language development Intrauterine growth retardation Alopecia Encephalocele Broad nasal tip Wide nasal bridge Uplifted earlobe Retrocerebellar cyst Snoring Obstructive sleep apnea Tracheomalacia Cortical gyral simplification Laryngomalacia Sleep apnea Broad forehead Apnea Hepatomegaly Hypoplasia of the corpus callosum Abnormality of the skeletal system Respiratory distress Downslanted palpebral fissures Respiratory failure Ataxia Feeding difficulties in infancy Bifid nose Agenesis of cerebellar vermis Broad philtrum Conical tooth Calvarial skull defect Coronal craniosynostosis Scrotal hypoplasia Fine hair Oligohydramnios Myopia Kyphosis Intellectual disability, moderate Blepharophimosis Spherocytosis Abnormality of the hypothalamus-pituitary axis External ear malformation Preauricular pit Anosmia Sacral dimple Azoospermia Hypogonadotrophic hypogonadism Hypoplasia of penis Mitral valve prolapse Microcornea Retinal dystrophy Hemolytic anemia Iris coloboma Patent ductus arteriosus Hypospadias Splenomegaly Atrial septal defect Talipes equinovarus Feeding difficulties Short stature Impaired mastication Slender finger Obsessive-compulsive behavior Drooling Dental crowding Astigmatism Smooth philtrum Hyperlordosis Autism Underdeveloped nasal alae Agenesis of corpus callosum Renal cyst Broad columella Pectus carinatum Scarring Sparse hair Neurodevelopmental delay Growth hormone deficiency Narrow palate Sparse eyebrow Bilateral cryptorchidism Hypothyroidism Prominent forehead Depressed nasal tip Ventriculomegaly Cognitive impairment Diastema Bulbous nose Aplasia cutis congenita of scalp Parietal foramina Wide nasal ridge Proximal renal tubular acidosis Renal tubular acidosis Metabolic acidosis Postaxial polydactyly Symmetrical, oval parietal bone defects Hearing impairment Sensorineural hearing impairment Neonatal hypotonia Acidosis Polydactyly Anal atresia Thick vermilion border Cleft palate Obesity Microphthalmia Intellectual disability, mild Abnormality of the dentition Epiphyseal stippling Frontal bossing Epicanthus inversus Generalized neonatal hypotonia Sandal gap Narrow palpebral fissure Pointed chin Calcific stippling Wide mouth Clinodactyly Absent speech Single transverse palmar crease Short nose Aged leonine appearance Absent lower eyelashes Multiple rows of eyelashes Distichiasis Periorbital fullness Absent eyelashes Aplasia cutis congenita Abnormality of the sternum Dermal atrophy Conjunctivitis Broad thumb Short palpebral fissure Ectodermal dysplasia Supernumerary ribs



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