Downslanted palpebral fissures, and Sloping forehead

Diseases related with Downslanted palpebral fissures and Sloping forehead

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

Top matches:

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Other less relevant matches:

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

High match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Sloping forehead

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Wide nasal bridge Ventricular septal defect Atrial septal defect High palate Convex nasal ridge Intrauterine growth retardation Abnormal facial shape Growth delay Hearing impairment Strabismus Epicanthus Macrotia Scoliosis Bulbous nose Muscular hypotonia Cataract Delayed skeletal maturation Clinodactyly of the 5th finger Pointed chin Severe short stature Retrognathia Blepharophimosis Hypertelorism Depressed nasal bridge Full cheeks Abnormality of the skeletal system Nystagmus Upslanted palpebral fissure Leukemia Anteverted nares Microphthalmia Hypoplasia of dental enamel Specific learning disability Intellectual disability, mild Clinodactyly Hypospadias Cleft palate Ptosis Hypermetropia Pachygyria Delayed speech and language development Protruding ear Triangular face Prominent nasal bridge Talipes equinovarus Pes planus Failure to thrive Proportionate short stature Camptodactyly

Rare Symptoms - Less than 30% cases

Craniosynostosis Abnormal heart morphology Glaucoma Selective tooth agenesis Microtia Microcornea 11 pairs of ribs Optic atrophy Multiple cafe-au-lait spots Hypodontia Postnatal growth retardation High forehead Precocious puberty Cortical gyral simplification Reduced number of teeth Small for gestational age Synophrys Frontal bossing Conductive hearing impairment Long philtrum Patent foramen ovale Myelodysplasia Narrow face Clitoral hypertrophy Severe intrauterine growth retardation Prominent nose Sparse scalp hair Sensorineural hearing impairment Oligodontia Ivory epiphyses Abnormal cortical gyration Tapered finger Talipes Thick vermilion border Neoplasm Thick eyebrow Short nose Corneal opacity Dolichocephaly Abnormality of skin pigmentation Neonatal hypotonia Attention deficit hyperactivity disorder Edema Prominent forehead Dry skin Spasticity Acute lymphoblastic leukemia Cavum septum pellucidum Cerebral atrophy Polymicrogyria Nephroblastoma Joint laxity Cutis laxa Narrow palpebral fissure Aggressive behavior Patent ductus arteriosus Mandibular prognathia Overgrowth Hip dislocation Wide nose Hyperactivity Coarctation of aorta Lymphedema Narrow forehead Narrow palate Anemia Cerebellar hypoplasia Cafe-au-lait spot Deeply set eye Coloboma Lymphoma Hypertonia Sacrococcygeal teratoma Pigmentary retinopathy Blindness Gray matter heterotopias Small cell lung carcinoma Astigmatism Abnormality of the cerebral ventricles Visual loss Broad nasal tip Reduced visual acuity Sleep disturbance Retinopathy Thin upper lip vermilion Myopia Retinal dystrophy Intellectual disability, severe Rigidity Retinal detachment Carcinoma Expressive language delay Renal agenesis Abnormal vertebral morphology Status epilepticus Tall stature Heterotopia Clumsiness Small nail Apraxia Otitis media Abnormal dermatoglyphics Coarse facial features Vesicoureteral reflux Jaundice High, narrow palate Joint hypermobility Genu valgum Respiratory tract infection Abnormality of the kidney Accelerated skeletal maturation Redundant skin Hyperplasia of the maxilla Long foot Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Advanced eruption of teeth Enlarged cisterna magna Large hands High anterior hairline Poor coordination Neuroblastoma Prolonged neonatal jaundice Partial agenesis of the corpus callosum Macrocephaly Agenesis of permanent teeth Behavioral abnormality Bilateral sensorineural hearing impairment Brachydactyly Thick lower lip vermilion Flared metaphysis Radial bowing Severe postnatal growth retardation Dilatation of the cerebral artery Disproportionate short stature Slender long bone Tibial bowing Limited elbow extension Truncal obesity Aplasia/Hypoplasia of the eyebrow High pitched voice Short middle phalanx of finger Hypoplastic iliac wing Abnormality of dental morphology Cone-shaped epiphysis Nasal speech Laryngomalacia Hypopigmented skin patches Acanthosis nigricans Coxa vara Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Hemiparesis Increased intraocular pressure Tracheal stenosis Epidermal acanthosis Pseudoepiphyses of the metacarpals Rootless teeth Alveolar process hypoplasia Overtubulated long bones Generalized microdontia Straight clavicles Projectile vomiting High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Thin clavicles Distal symphalangism Forearm undergrowth Hypoplastic scapulae Pseudoepiphyses Large sella turcica Narrow pelvis bone Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Arterial stenosis Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Short 1st metacarpal Fine hair Type II diabetes mellitus Subcutaneous nodule Agitation Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Gangrene Abnormal eyelash morphology Underdeveloped supraorbital ridges Cellulitis Chorioretinal atrophy Flat occiput Prominent nasal tip Anophthalmia Scaling skin Bilateral ptosis Deep philtrum Optic nerve hypoplasia Venous thrombosis Muscle stiffness Skin ulcer Abnormality of retinal pigmentation Amblyopia Thickened skin Congenital microcephaly Abnormal nasolacrimal system morphology Limb undergrowth Obesity Microdontia Hip dysplasia Underdeveloped nasal alae Delayed myelination Short distal phalanx of finger Micromelia Joint hyperflexibility Narrow chest Stroke Skeletal dysplasia Recurrent respiratory infections Dilatation Erysipelas Headache Abnormality of the dentition Vomiting Vaginal neoplasm Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Hyperreflexia Abnormal finger flexion creases Premature chromatid separation Blue sclerae Hypoplasia of the brainstem Bifid scrotum Sparse eyebrow Abnormality of the genitourinary system Progressive microcephaly Sparse and thin eyebrow Long eyelashes Aganglionic megacolon Optic disc pallor Corneal erosion Wide intermamillary distance Hypoplasia of the maxilla Highly arched eyebrow Everted lower lip vermilion Small hand Iris coloboma Severe global developmental delay Finger syndactyly Short philtrum Megalocornea Corneal ulceration Telecanthus Thin vermilion border Horseshoe kidney Gingival overgrowth Cholestasis Hypoplasia of penis Postaxial hand polydactyly Cerebral calcification Downturned corners of mouth Postaxial polydactyly Hepatic failure Toe syndactyly Hypertension Abnormality of the liver Elevated hepatic transaminase Hepatosplenomegaly Polydactyly Osteoporosis Myoclonus Thrombocytopenia Syndactyly Hepatomegaly Sparse hair Constipation Opacification of the corneal stroma Sepsis Wide nasal base Entropion Disproportionate tall stature Bundle branch block Right bundle branch block Mask-like facies Focal impaired awareness seizure Focal-onset seizure Gliosis Hypertrophic cardiomyopathy Visual impairment Micropenis Pneumonia Inguinal hernia Hernia Congestive heart failure Cardiomyopathy Motor delay Flexion contracture Large beaked nose Narrow naris Cerebellar atrophy Short neck Hypocalcemia Hypertensive crisis Diffuse mesangial sclerosis Hand clenching Corpus callosum atrophy Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Leukodystrophy Midface retrusion Postnatal microcephaly Nephrotic syndrome Oligohydramnios Ichthyosis Stage 5 chronic kidney disease Arachnodactyly Proteinuria Narrow mouth Pectus excavatum Hyperbilirubinemia Arnold-Chiari malformation Epidermoid cyst Apnea Depressed nasal ridge Short palpebral fissure Ambiguous genitalia Dandy-Walker malformation Growth hormone deficiency Ascites Long face Muscular dystrophy Abnormality of the eye Low-set, posteriorly rotated ears Multicystic kidney dysplasia Polyhydramnios Hypothyroidism Abnormality of cardiovascular system morphology Cognitive impairment Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Small anterior fontanelle Lumbar scoliosis Rhizomelia Finger clinodactyly Abnormally large globe Abnormal lung lobation Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormality of immune system physiology Osteolysis Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Microretrognathia Acute monocytic leukemia Chromosome breakage Elevated alkaline phosphatase Acanthocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Thick upper lip vermilion Severe generalized osteoporosis Intrahepatic cholestasis Myelomeningocele Meningocele Postaxial foot polydactyly Prominent metopic ridge Biparietal narrowing Pathologic fracture Bilateral talipes equinovarus Portal hypertension Schistocytosis Foam cells with lamellar inclusion bodies Cone-shaped epiphyses of the phalanges of the hand Single transverse palmar crease Dislocated radial head Acute myeloid leukemia Myeloid leukemia Sandal gap Elbow flexion contracture Dental crowding Cerebellar vermis hypoplasia Pancytopenia Dental malocclusion Facial asymmetry Bilobate gallbladder Pulmonic stenosis Abnormality of the pinna Hyperlordosis Intellectual disability, moderate Posteriorly rotated ears Pes cavus Kyphosis Abnormality of the thoracic spine Lumbosacral meningocele Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


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