Growth delay, and Upslanted palpebral fissure

Diseases related with Growth delay and Upslanted palpebral fissure

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

Top matches:

RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

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

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Medium match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY

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

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

Top 5 symptoms//phenotypes associated to Growth delay and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Upslanted palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Generalized hypotonia Hearing impairment Sensorineural hearing impairment Seizures Intrauterine growth retardation Cataract Hypertelorism

Rare Symptoms - Less than 30% cases

Abnormality of the nervous system Broad hallux Delayed speech and language development Synophrys Prominent nose Short neck Underdeveloped nasal alae Thin upper lip vermilion Cleft palate Esotropia Aggressive behavior Hyperactivity Depressed nasal bridge Cognitive impairment Strabismus Wide nasal bridge Broad nasal tip Macroglossia Malar flattening Cupped ear Protruding ear Mildly elevated creatine phosphokinase Horizontal nystagmus Oligodontia Reduced number of teeth Overbite Small forehead Short thorax Alternating esotropia Cryptorchidism Spina bifida occulta Polydactyly Acidosis Broad thumb Prominent occiput Hypotelorism Poor speech Sloping forehead Vertebral segmentation defect Nystagmus Slender finger Missing ribs Abnormality of female internal genitalia Overlapping toe Sandal gap Postnatal microcephaly Short palpebral fissure Abnormal sacrum morphology Neonatal hypotonia Renal tubular acidosis Postaxial polydactyly Abnormality of cardiovascular system morphology Impaired social interactions Scoliosis Intention tremor Everted lower lip vermilion Wide nose Macrocephaly Falls Unsteady gait Smooth philtrum Anteverted nares Wide mouth Small hand Recurrent respiratory infections Metabolic acidosis Severe short stature Autism Brachycephaly Hyperlordosis Elevated serum creatine phosphokinase Intellectual disability, mild Tremor Low-set ears Abnormality of the ribs Ptosis Pain Proximal renal tubular acidosis Frequent falls Autistic behavior Erythroderma Hypermetropia Spastic diplegia Joint hypermobility Coarse facial features Kyphosis Neurodevelopmental delay Growth hormone deficiency Delayed myelination Telecanthus Hypothyroidism Prominent forehead Behavioral abnormality Ventriculomegaly Failure to thrive Dry hair Brittle hair Hirsutism Narrow face Triangular face Long face Nail dystrophy Atrial septal defect Spasticity Mottled pigmentation Cone dysfunction syndrome Widely spaced teeth Dental malocclusion Retinal dystrophy Nyctalopia Retinopathy Rod-cone dystrophy Thick eyebrow Thick vermilion border Abnormality of the cerebral white matter Ichthyosis Pes planus Narrow mouth Clinodactyly Abnormality of the skeletal system Myopia Micrognathia Decreased serum ceruloplasmin Hypocupremia Intrahepatic cholestasis Congenital sensorineural hearing impairment Abnormal intestine morphology Hepatic fibrosis Cholestasis Cirrhosis Erythema Small nail High forehead Hyperkeratosis Diarrhea Peripheral neuropathy Prominent nasal septum Broad eyebrow Bifid nasal tip Widow's peak Anonychia Deep philtrum Gingival overgrowth Long eyelashes Hypertrichosis Depressed nasal ridge Posterior rib fusion


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