Failure to thrive, and Upslanted palpebral fissure

Diseases related with Failure to thrive and Upslanted palpebral fissure

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

Top matches:

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

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Other less relevant matches:

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

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

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

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Upslanted palpebral fissure

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

Other less frequent symptoms

Patients with Failure to thrive and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hypertelorism Smooth philtrum Absent speech Anteverted nares Downslanted palpebral fissures Feeding difficulties Short stature Growth delay Nystagmus Hearing impairment Short nose Arachnodactyly Thin vermilion border Hypoplasia of the corpus callosum Epicanthus Delayed speech and language development Low-set ears High palate Scoliosis Telecanthus Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Respiratory distress Micrognathia Severe global developmental delay Spasticity Flat occiput Coarse facial features Ataxia Brachycephaly Hypertonia Everted lower lip vermilion Muscular hypotonia of the trunk Bulbous nose Inability to walk Microphthalmia Neoplasm Microcornea Ovarian neoplasm Myopia Wide mouth Prominent nasal bridge Malar flattening Blepharophimosis Joint laxity Triangular face Long philtrum Prominent forehead Behavioral abnormality Wide nose Ventriculomegaly Delayed myelination Thin upper lip vermilion Delayed ability to walk Esotropia Small scrotum Small for gestational age Dry skin Long face Hirsutism High, narrow palate Wide nasal ridge Abdominal distention Sepsis Hypoglycemia Large fleshy ears Long upper lip Specific learning disability Microdontia Epidermal acanthosis Deep plantar creases Short palpebral fissure Hypertrichosis Short philtrum Short foot Retrognathia Stomach cancer Long eyelashes Low anterior hairline Bone marrow hypocellularity Schizophrenia Narrow palate Breast carcinoma Proximal placement of thumb Chromosome breakage Thick upper lip vermilion Macrodontia Abnormal peripheral nervous system morphology Duodenal stenosis Ovarian carcinoma Optic atrophy Abnormality of the dentition Unilateral narrow palpebral fissure Respiratory failure Hypoplastic areola Prominent median palatal raphe Mandibular prognathia Dyspnea Deep palmar crease Broad philtrum Cryptorchidism Choroideremia Abnormal lip morphology Diabetic ketoacidosis Chorioretinal dystrophy Muscle flaccidity Postprandial hyperglycemia Infantile muscular hypotonia Abnormality of upper lip Onychauxis Short neck Advanced eruption of teeth Midface retrusion Posteriorly rotated ears Widely spaced teeth Micropenis High forehead Macrotia Deeply set eye Narrow palpebral fissure Wide intermamillary distance Full cheeks Thin eyebrow Dental malocclusion Short palm Hyperglycemia Insulin resistance Preauricular skin tag Narrow face Broad face High anterior hairline Acanthosis nigricans Hyperinsulinemia Precocious puberty Lipodystrophy Clitoral hypertrophy Absent eyebrow Fasting hypoglycemia Pendular nystagmus Protuberant abdomen Insulin-resistant diabetes mellitus Broad foot Broad palm Multiple lipomas Ketoacidosis Long foot Abnormality of the optic nerve Thick nail Long penis Wide nasal bridge Hypopigmentation of the skin Developmental regression Motor delay Hydrocephalus Intellectual disability, severe Cerebral atrophy Encephalopathy Cerebellar hypoplasia Dementia EEG abnormality Mental deterioration Focal-onset seizure Chronic constipation Epileptic encephalopathy Hypsarrhythmia Intellectual disability, profound Cerebellar vermis hypoplasia Progressive neurologic deterioration Broad thumb Hypoplasia of dental enamel Hypohidrosis Abnormality of dental enamel Coarse hair Demyelinating peripheral neuropathy Syringomyelia Abnormality of dental color Constipation Cognitive impairment Hyperactivity Hypothyroidism Aggressive behavior Growth hormone deficiency Neurodevelopmental delay Peripheral neuropathy Areflexia Abnormal heart morphology Gait ataxia Onion bulb formation Abnormal cardiac septum morphology Abnormality of the foot Poor speech Unsteady gait Distal sensory impairment Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Amelogenesis imperfecta Yellow-brown discoloration of the teeth Hip dislocation Short chin Global brain atrophy Long toe Pes planus Postnatal growth retardation Highly arched eyebrow Broad nasal tip Open mouth Tall stature Dental crowding Trigonocephaly CNS hypomyelination Hypoplasia of the brainstem Disproportionate tall stature Severe postnatal growth retardation Ulnar deviation of the hand Anemia Intrauterine growth retardation Clinodactyly Conductive hearing impairment Carcinoma Sparse hair Overfolded helix Mutism Apnea Skeletal muscle atrophy Broad forehead Sleep apnea Laryngomalacia Cortical gyral simplification Tracheomalacia Obstructive sleep apnea Snoring Retrocerebellar cyst Uplifted earlobe Hyperreflexia Abnormality of the skeletal system Leukodystrophy Babinski sign Cerebral cortical atrophy Abnormality of the pinna Pectus carinatum Generalized tonic-clonic seizures Thick vermilion border Brain atrophy Narrow forehead Postnatal microcephaly Progressive microcephaly Bipolar affective disorder


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Long face, related diseases and genetic alterations Delayed speech and language development and Astigmatism, related diseases and genetic alterations Cryptorchidism and Cholestasis, related diseases and genetic alterations Peripheral neuropathy and Focal seizures, related diseases and genetic alterations