Downslanted palpebral fissures, and Bulbous nose

Diseases related with Downslanted palpebral fissures and Bulbous nose

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Other less relevant matches:

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

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

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Hypoplasia of the corpus callosum Low-set ears Anteverted nares Microcephaly Hypertelorism Feeding difficulties Highly arched eyebrow Arachnodactyly Hearing impairment Thick vermilion border Abnormality of the pinna Broad nasal tip Absent speech Long philtrum Short nose Upslanted palpebral fissure Ptosis Epicanthus Depressed nasal bridge High palate Frontal bossing Wide mouth Pes planus Myopia Micrognathia Hernia Nystagmus Smooth philtrum

Rare Symptoms - Less than 30% cases

Synophrys Abnormal cardiac septum morphology Thick eyebrow Coloboma Overgrowth Depressed nasal ridge Intestinal malrotation Low anterior hairline Ventriculomegaly Macrotia Relative macrocephaly Wide nasal bridge Cerebellar hypoplasia Scarring Skeletal muscle atrophy Flexion contracture Joint hypermobility Pulmonary insufficiency Scoliosis Downturned corners of mouth Adducted thumb Postnatal microcephaly Thin vermilion border Prominent forehead Cryptorchidism Macrocephaly Failure to thrive Atrial septal defect Congenital diaphragmatic hernia Sparse hair Inguinal hernia Camptodactyly Prominent nasal bridge Inability to walk Hepatic failure Hypertonia Abnormality of the skeletal system Mutism Hyperreflexia Cleft lip Spasticity Facial asymmetry Ulnar deviation of the hand Pulmonary hypoplasia Iris coloboma Dandy-Walker malformation Malar flattening Posteriorly rotated ears Polyhydramnios Sensorineural hearing impairment CNS hypomyelination Overfolded helix Global brain atrophy Leukodystrophy Progressive microcephaly Long toe Narrow forehead Brain atrophy Babinski sign Motor delay Triangular face Generalized tonic-clonic seizures Optic atrophy Pectus carinatum Hydrocephalus Muscular hypotonia of the trunk Cerebral cortical atrophy Microdontia Wide intermamillary distance Cholestasis Emphysema Proptosis Joint laxity Recurrent fractures Convex nasal ridge Oligohydramnios Bradycardia Spina bifida Joint dislocation Narrow palpebral fissure Cutis laxa Aortic aneurysm Aortic root aneurysm Dilatation Soft skin Abnormality of the vasculature Arterial stenosis Narrow naris Biventricular hypertrophy Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Pectus excavatum Unilateral cryptorchidism Heterotopia Dysarthria Wide anterior fontanel Microretrognathia Lissencephaly Cortical gyral simplification Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Macular hypoplasia Severe hydrocephalus Periventricular gray matter heterotopia Delayed speech and language development Gait disturbance Diastema Constipation Thin upper lip vermilion Aggressive behavior Delayed ability to walk High myopia Broad thumb Long eyelashes Slender finger Single umbilical artery Volvulus Speech apraxia Cavum septum pellucidum Severe postnatal growth retardation Aplasia/Hypoplasia of the skin Disproportionate tall stature Gingival fibromatosis EEG abnormality Hirsutism Delayed eruption of teeth Hypertrichosis Gingival overgrowth Generalized hirsutism Widely spaced teeth Deep philtrum Peritonitis Wide nasal base Kyphoscoliosis Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Congenital, generalized hypertrichosis Short stature Cleft palate Talipes equinovarus Short neck Hyperlordosis Hip dislocation Coarse facial features Abnormality of the dentition Ophthalmoplegia Dystonia Hypospadias Dolichocephaly Astigmatism Supernumerary nipple Prominent metopic ridge Low hanging columella Square face Muscular hypotonia Cataract Microphthalmia Cognitive impairment Acidosis High forehead Lactic acidosis Metabolic acidosis Delayed myelination Underdeveloped nasal alae Aciduria Infantile muscular hypotonia Tented upper lip vermilion Ataxia Arthrogryposis multiplex congenita Round face Hypoplasia of the brainstem Abnormality of the sacroiliac joint Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Lacrimation abnormality Abnormality of the upper urinary tract Dimple chin Distichiasis Sparse lower eyelashes Prematurely aged appearance Congenital horizontal nystagmus Growth delay Postnatal growth retardation Severe global developmental delay Everted lower lip vermilion Open mouth Tall stature Dental crowding Short chin Trigonocephaly Aplasia cutis congenita Multiple cafe-au-lait spots Lumbar hyperlordosis Hypoplastic labia majora Exotropia Elbow flexion contracture Congenital hip dislocation Pterygium Congenital contracture Rocker bottom foot Decreased muscle mass Submucous cleft hard palate Distal arthrogryposis Furrowed tongue Redundant skin Labial hypoplasia Calcaneovalgus deformity Tongue atrophy Unilateral ptosis Limited knee flexion Hypertension Short philtrum Anal atresia Horizontal nystagmus Hypopigmented skin patches Pulmonary artery dilatation


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