Downslanted palpebral fissures, and Intellectual disability, profound

Diseases related with Downslanted palpebral fissures and Intellectual disability, profound

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


Top matches:

High match X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE


X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

High match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

High match HARTSFIELD SYNDROME


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

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Other less relevant matches:

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE


AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

High match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2


Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

High match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

High match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

High match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

High match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

High match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Intellectual disability, profound

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Intellectual disability, profound. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Absent speech Microcephaly Feeding difficulties Posteriorly rotated ears Strabismus Wide nasal bridge Ptosis Growth delay Epicanthus Frontal bossing Anteverted nares Poor speech Long philtrum High palate Short stature Intrauterine growth retardation Depressed nasal bridge Delayed speech and language development Scoliosis Autism Brachydactyly Abnormal facial shape Patent ductus arteriosus Talipes equinovarus Cataract Muscular hypotonia Microphthalmia Severe global developmental delay Aplasia/Hypoplasia of the corpus callosum Abnormality of digit Sensorineural hearing impairment Failure to thrive Hearing impairment Nystagmus Infantile muscular hypotonia Short nose Malar flattening Tented upper lip vermilion Prominent nose Sleep disturbance Bulbous nose Brachycephaly Smooth philtrum Constipation Micrognathia Hypoplasia of the corpus callosum Dental crowding Broad forehead Cryptorchidism Recurrent infections Holoprosencephaly Flexion contracture Long face Intellectual disability, moderate Cleft palate Coarse facial features Polydactyly

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Thin upper lip vermilion Joint laxity Prominent nasal bridge Short philtrum Thick lower lip vermilion Intellectual disability, mild Bilateral sensorineural hearing impairment Osteopenia Short neck High forehead Gingival overgrowth Self-mutilation Abnormality of dental morphology Colpocephaly Ataxia Hypertonia Optic atrophy Ventricular septal defect Hyperreflexia Dandy-Walker malformation Median cleft palate Wide mouth Esotropia Myopia Optic nerve hypoplasia Drooling Hypotelorism Tapered finger Aganglionic megacolon Autistic behavior Hypertension Anxiety Macrotia Gastroesophageal reflux Narrow mouth Thick eyebrow Abnormality of the skeletal system Congestive heart failure Midface retrusion Abnormality of the dentition Dilatation Hernia Polyhydramnios Profound global developmental delay Facial hypotonia Severe muscular hypotonia Ventriculomegaly Overlapping toe Motor delay Wide nose Hydronephrosis Hip dislocation Facial asymmetry Joint hyperflexibility Atrial septal defect Aplasia/Hypoplasia of the radius Thick vermilion border Renal agenesis Convex nasal ridge Poor head control Short toe Split hand Ectodermal dysplasia Attention deficit hyperactivity disorder Hirsutism Encephalocele Aggressive behavior Protruding ear Low-set, posteriorly rotated ears Hyperactivity Telecanthus Relative macrocephaly Micropenis Agenesis of corpus callosum Hypospadias Unilateral renal agenesis Syndactyly Behavioral abnormality Postaxial polydactyly Iris coloboma Polymicrogyria Sparse hair Inguinal hernia Cerebellar hypoplasia Abnormal heart morphology Feeding difficulties in infancy Postnatal growth retardation Clinodactyly of the 5th finger Diarrhea Broad thumb Long eyelashes Short palpebral fissure Microretrognathia Oligodontia Camptodactyly Broad-based gait Kyphosis Vomiting Thin skin Hemiparesis Decreased testicular size Abnormality of limbs Fine hair Abnormality of cardiovascular system morphology Dermal atrophy Hyperhidrosis Osteoporosis Febrile seizures Severe short stature Posterior staphyloma Short 2nd toe Upslanted palpebral fissure Glaucoma Proptosis Edema Nail dysplasia Conical tooth Abnormality of the periventricular white matter Cleft soft palate Generalized osteoporosis Excessive salivation Overbite Broad hallux phalanx Pes valgus Short columella Downturned corners of mouth Short palm Thin vermilion border Narrow nose Arachnodactyly Happy demeanor Toe clinodactyly Restlessness Abnormality of the cerebral white matter Skeletal dysplasia Hydrocephalus Fever Dental malocclusion Narrow jaw Conspicuously happy disposition Narrow maxilla Bilateral talipes equinovarus Long nose Incomprehensible speech Abnormality of the foot Talipes Dacryocystitis Large beaked nose Myopathic facies Retrognathia Opsoclonus Hypoglycemia Atrioventricular canal defect Hip subluxation Increased serum testosterone level Abnormal eyelash morphology Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Ulnar deviation of finger Increased number of teeth Biparietal narrowing Mesomelia Upper limb undergrowth Hyperkalemia Adrenal insufficiency 2-3 toe syndactyly Metatarsus adductus Cutis marmorata Aplasia/Hypoplasia of the cerebellum Bifid scrotum Hammertoe Clitoral hypertrophy Proximal placement of thumb Self-injurious behavior Mesomelic short stature Postaxial foot polydactyly Precocious puberty Abnormality of the larynx Ureteropelvic junction obstruction Ectopic calcification Advanced eruption of teeth Increased nuchal translucency Gastroschisis Decreased circulating aldosterone level Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Broad alveolar ridges Male pseudohermaphroditism Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Tracheal stenosis Sclerocornea Severe failure to thrive Microglossia Hyponatremia Pyloric stenosis Abnormality of the kidney Facial capillary hemangioma Abnormality of the ribs Coarctation of aorta Congenital diaphragmatic hernia Decreased fetal movement Hypoplasia of penis Oligohydramnios Ambiguous genitalia Eczema Narrow forehead Postaxial hand polydactyly Limb undergrowth Cutaneous photosensitivity Peripheral demyelination Wide intermamillary distance Webbed neck Intestinal malrotation Premature birth Renal cyst Hypopigmentation of the skin Pulmonary hypoplasia Micromelia Toe syndactyly Finger syndactyly Renal hypoplasia Recurrent otitis media Poor suck Abnormality of dental enamel Abnormality of the urinary system Reduced number of teeth Abnormality of the metacarpal bones Renal hypoplasia/aplasia Talipes calcaneovalgus Periventricular gray matter heterotopia Hypoplasia of the frontal lobes Scrotal hypoplasia Abnormal dermatoglyphics Hypercholesterolemia Abnormality of the gallbladder Septate vagina Severe photosensitivity Lop ear Sleep-wake cycle disturbance Hyperbilirubinemia Multicystic kidney dysplasia Short thumb Alveolar ridge overgrowth Rhizomelia Amblyopia Abnormality of the genital system Abnormal form of the vertebral bodies Choanal atresia Scleral staphyloma Small nail Lens luxation Generalized joint laxity Prominent veins on trunk Prominent nasolabial fold Abnormal isoelectric focusing of serum transferrin Psychomotor deterioration Excessive wrinkled skin Thick hair Delayed closure of the anterior fontanelle Redundant neck skin Decreased muscle mass Thick cerebral cortex Emphysema Lipodystrophy Redundant skin Coarse hair Cutis laxa Lissencephaly Congenital hip dislocation Progressive microcephaly Abnormal subcutaneous fat tissue distribution Abnormality of the intrinsic pathway High myopia Brain atrophy Generalized tonic seizures Hip contracture Global brain atrophy Failure to thrive in infancy Cachexia Plagiocephaly Choreoathetosis Open mouth Triangular face Fragmented elastic fibers in the dermis Small hand Dyskinesia Inability to walk Prominent forehead Encephalopathy Cerebral atrophy Dystonia Abnormal apolipoprotein level Subretinal pigment epithelium hemorrhage Pachygyria Broad nasal tip Profound static encephalopathy Absent nares Infra-orbital crease Enlarged cisterna magna Molar tooth sign on MRI Deep philtrum Cerebellar vermis hypoplasia Deeply set eye EEG abnormality Rod-cone dystrophy Female infertility Hypogonadism Macroorchidism Ankle contracture Long fingers Limited elbow extension Delayed gross motor development Abnormality of the fingernails Knee flexion contracture Pointed chin Obesity Respiratory insufficiency Neonatal hypotonia Carious teeth Gonadotropin deficiency Dementia Lobar holoprosencephaly Hypoplasia of the frontal bone Duplication of thumb phalanx Hypernatremia Semilobar holoprosencephaly Long hallux Central diabetes insipidus Megalocornea Cleft lip Ectrodactyly Absent septum pellucidum Non-midline cleft lip Diabetes insipidus Hypoplasia of the brainstem Cutaneous syndactyly Oral cleft Cleft upper lip Craniosynostosis Appendicular hypotonia Dysphagia Short upper lip Thin bony cortex Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Dystrophic fingernails Short distal phalanx of toe Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Metaphyseal widening Growth abnormality Hemangioma Prominent eyelashes Mesiodens Accelerated skeletal maturation Aortic regurgitation Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Chorioretinal coloboma Aortic aneurysm Genu varum Abnormal palate morphology Short chin Visual impairment Progressive visual loss Microcornea Highly arched eyebrow Dolichocephaly Corneal opacity Coloboma Mental deterioration Pes planus Gait ataxia Spina bifida occulta Intellectual disability, progressive Myopathy Lower limb spasticity Central hypotonia Hypoventilation Poor eye contact Progressive spasticity Myotonia Premature ovarian insufficiency Aspiration Stereotypy Chorea Bruxism Neurodegeneration Respiratory tract infection Developmental regression Rigidity Hypothyroidism Recurrent respiratory infections Pneumonia Depressivity Abnormality of metabolism/homeostasis Chronic constipation Central hypoventilation Hemivertebrae Joint hypermobility Generalized hirsutism Thickened skin Nephrolithiasis Hypertrichosis Overgrowth Macroglossia Delayed eruption of teeth Short distal phalanx of finger Synophrys Infantile axial hypotonia Congenital cataract Hepatosplenomegaly Umbilical hernia Dyspnea Mandibular prognathia Splenomegaly Cardiomyopathy Hepatomegaly Hostility Elevated 7-dehydrocholesterol



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