Downslanted palpebral fissures, and Neonatal hypotonia

Diseases related with Downslanted palpebral fissures and Neonatal hypotonia

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

Top matches:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Other less relevant matches:

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

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

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

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Neonatal hypotonia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Microcephaly Low-set ears Wide nasal bridge Short stature Anteverted nares Wide mouth Strabismus High palate Intellectual disability, severe Deeply set eye Depressed nasal bridge Downturned corners of mouth Short philtrum Wide nose Pointed chin Cerebellar atrophy Broad nasal tip Muscular hypotonia Poor speech Broad forehead Severe global developmental delay Growth delay Absent speech

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Gastroesophageal reflux Feeding difficulties Posteriorly rotated ears Cerebral cortical atrophy Poor head control Dysarthria Long philtrum Delayed speech and language development High forehead Prominent nose Decreased fetal movement Nystagmus Protruding ear Micropenis Cryptorchidism Dysmetria Hypoplasia of the corpus callosum Respiratory insufficiency Low hanging columella Myopathic facies Talipes Agenesis of corpus callosum Pes planus Coarse facial features Ptosis Ventriculomegaly Long face Telecanthus Triangular face Deep philtrum Delayed ability to walk Inverted nipples Oval face Stereotypy Bulbous nose Talipes equinovarus Ataxia Autistic behavior Astigmatism Microphthalmia Short neck Cataract Cleft palate Hyperactivity Thin upper lip vermilion Low-set, posteriorly rotated ears Generalized tonic-clonic seizures Hypermetropia Pain Long fingers Aggressive behavior Cerebral atrophy Mitral valve prolapse Patent ductus arteriosus Abnormal heart morphology Growth hormone deficiency Apraxia Pain insensitivity Short chin Hydronephrosis Overfolded helix Upslanted palpebral fissure Retrognathia Abnormality of the genitourinary system Smooth philtrum Abnormality of the pinna Renal cyst Non-midline cleft lip Short palpebral fissure High anterior hairline Broad thumb Short thumb Low anterior hairline Intellectual disability, progressive Adducted thumb Broad hallux Anonychia Global brain atrophy Poor eye contact Short columella Thick nasal alae Horizontal eyebrow Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Flat forehead Tented philtrum Overfolding of the superior helices Pseudoepiphysis of the thumb Absent nail of hallux Hypoplastic thumbnail Frontal bossing Coarctation of aorta Flat occiput Renal dysplasia Intellectual disability, profound Cleft upper lip Semilobar holoprosencephaly Long hallux Central diabetes insipidus Small nail Gonadotropin deficiency Oral cleft Ectodermal dysplasia Hypotelorism Split hand Hypernatremia Megalocornea Aplasia/Hypoplasia of the radius Encephalocele Holoprosencephaly Ectrodactyly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Absent septum pellucidum Hypoplasia of the brainstem Diabetes insipidus Craniosynostosis Cleft lip Narrow palate Narrow philtrum Delayed myelination Abnormality of digit Hypoplastic left heart Vesicoureteral reflux Mitral stenosis Gastrointestinal dysmotility Synophrys Broad columella Neurological speech impairment Infra-orbital crease Duplication of thumb phalanx Prominent nasal bridge Muscular hypotonia of the trunk Prominent forehead Dysphagia Intrauterine growth retardation Syndactyly Hypospadias Lobar holoprosencephaly Hypogonadism Hypoplasia of the frontal bone Open mouth Babinski sign Wide intermamillary distance Secundum atrial septal defect Bullet-shaped distal phalanx of the hallux Micrognathia Hepatomegaly Ventricular septal defect Atrial septal defect Congestive heart failure Areflexia Pulmonic stenosis Round face Epiphyseal stippling Perimembranous ventricular septal defect Abnormal oral frenulum morphology Right aortic arch Generalized neonatal hypotonia Macrocephaly Tremor Edema Intellectual disability, mild Constipation Gait ataxia Narrow mouth Abnormal pyramidal sign Unsteady gait Abnormality iris morphology Hand clenching Memory impairment Fair hair Everted lower lip vermilion Tented upper lip vermilion Motor delay Sparse hair Blepharophimosis Fine hair Narrow palpebral fissure Language impairment Long palpebral fissure Self-mutilation Tics Small face Long toe Inappropriate laughter Failure to thrive Behavioral abnormality Coloboma Camptodactyly of finger Small for gestational age Toe syndactyly Arachnodactyly Interphalangeal joint contracture of finger Central apnea Generalized myoclonic seizures Intention tremor Full cheeks Genu recurvatum Narrow forehead Spastic tetraplegia Amblyopia Narrow face Drooling Decreased muscle mass Long nose Progressive spastic paraplegia Abnormality of the periventricular white matter Overweight Facial hypotonia Tetraplegia Generalized joint laxity Spastic dysarthria Acetabular dysplasia Everted upper lip vermilion Shyness Prominent antihelix Hearing impairment Malar flattening Short distal phalanx of finger Thick vermilion border Tapered finger Waddling gait Paraplegia Thick lower lip vermilion Poor motor coordination Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Palpebral edema Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Narrow nasal tip Spastic paraplegia Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Segmental myoclonic seizures Spasticity Flexion contracture Hyperreflexia Hypertonia Dystonia Difficulty walking Broad chin


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