Downslanted palpebral fissures, and Hypospadias

Diseases related with Downslanted palpebral fissures and Hypospadias

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

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

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Hypospadias

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases

Seizures Microcephaly Epicanthus Delayed speech and language development Micrognathia Generalized hypotonia Frontal bossing Wide nasal bridge Growth delay Short stature Cleft palate Strabismus Intrauterine growth retardation Hypoplasia of the corpus callosum Low-set, posteriorly rotated ears Anteverted nares Abnormal heart morphology Gastroesophageal reflux Syndactyly Plagiocephaly Microtia Microphthalmia Agenesis of corpus callosum Narrow mouth Ptosis Craniosynostosis Feeding difficulties Hernia Inguinal hernia Telecanthus

Rare Symptoms - Less than 30% cases

Abnormality of the nasopharynx Short foot Tapered finger Prominent forehead High anterior hairline Motor delay Congenital diaphragmatic hernia Delayed skeletal maturation Failure to thrive Micropenis Short neck Midface retrusion Pectus excavatum Cutaneous syndactyly Blepharophimosis Scrotal hypoplasia Oral cleft Ventricular septal defect Cleft upper lip Protruding ear Depressed nasal bridge Respiratory insufficiency Cleft lip Abnormality of digit Short palm Pes planus Long philtrum Abnormal facial shape Camptodactyly Prominent nasal bridge Smooth philtrum Prominent metopic ridge Scoliosis Ventriculomegaly Everted lower lip vermilion Microcornea Tented upper lip vermilion High palate High forehead Upslanted palpebral fissure Short phalanx of finger Choanal atresia Limb undergrowth Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Broad metacarpals Exstrophy Osteoma Posterior pharyngeal cleft Cognitive impairment Macrocephaly Intellectual disability, mild Hydrocephalus Pseudoarthrosis Short metacarpal Polydactyly Umbilical hernia Finger syndactyly Hip dislocation Toe syndactyly Broad metatarsal Confusion Hirsutism Postaxial polydactyly Postural instability Right aortic arch Abnormality of the pharynx Chylothorax Recurrent urinary tract infections Dysphagia Abnormality of cardiovascular system morphology Patent ductus arteriosus Pneumonia Thin upper lip vermilion Pectus carinatum Anal atresia Hypodontia Intestinal malrotation Ambiguous genitalia Unerupted tooth Large fontanelles Broad thumb Aspiration Abnormality of the voice Increased number of teeth Double outlet right ventricle Bilateral cleft lip Aspiration pneumonia Bilateral cleft lip and palate Hydrocele testis Widow's peak Pulmonary artery atresia Volvulus Postaxial hand polydactyly Broad phalanx Joint contracture of the hand 3-4 finger syndactyly Abnormality of finger Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Hypoplastic toenails Cutaneous syndactyly of toes Metopic synostosis Abnormality of muscle fibers Sensorineural hearing impairment Camptodactyly of toe Abnormality of calvarial morphology Severe short stature Foot polydactyly Duplication of the distal phalanx of hand Failure to thrive in infancy Depressivity Increased susceptibility to fractures Short metatarsal Reduced number of teeth Malar flattening Disproportionate short-limb short stature 1-3 toe syndactyly Brachydactyly Respiratory distress Rhizomelia Postaxial foot polydactyly Hypophosphatemia Short nose Bowing of the long bones Abnormal bone ossification Accelerated skeletal maturation Renal phosphate wasting Platyspondyly Chordee Abnormal form of the vertebral bodies Preaxial polydactyly Mandibular prognathia Hand polydactyly Cloverleaf skull Spondyloepimetaphyseal dysplasia Hypoplastic scapulae Broad palm Trigonocephaly Hyperglycemia Preaxial hand polydactyly Large for gestational age Broad hallux Delayed cranial suture closure Partial agenesis of the corpus callosum Abnormality of the clavicle Cutaneous finger syndactyly Broad foot Scaphocephaly Shallow orbits Nasal obstruction Semilobar holoprosencephaly Absent sternal ossification Carious teeth Thick vermilion border Small hand Epileptic encephalopathy Long eyelashes Sandal gap Delayed ability to walk Short attention span Tented philtrum Hearing impairment Osteopenia Abnormality of the pinna Flat face Long face Wide intermamillary distance Microdontia Short palpebral fissure Overfolded helix Broad neck Ureterocele Visual impairment Dysarthria Optic atrophy Behavioral abnormality Autism Postnatal growth retardation Downturned corners of mouth Hypermetropia Coloboma Dilatation Myopia Atrial septal defect Dolichocephaly Astigmatism Thin vermilion border Bulbous nose Supernumerary nipple Low hanging columella Square face Cataract Spasticity Kyphosis Hydronephrosis Deeply set eye Sparse hair Abnormal cardiac septum morphology Short philtrum Congenital cataract Nevus Sparse eyebrow Nevus flammeus Abnormality of the skeletal system Absent speech Encephalopathy Clinodactyly Hyperactivity Autistic behavior Vesicoureteral reflux Birth length less than 3rd percentile Clitoral hypertrophy Narrow chest Hypoplasia of the maxilla Triangular face Thick lower lip vermilion Short ribs Recurrent pneumonia Coxa valga Coxa vara Microretrognathia Laryngomalacia Genu varum Growth abnormality Short thorax Talipes equinovarus Thoracic hypoplasia Slender long bone Tracheomalacia Severe postnatal growth retardation Calvarial skull defect Sparse axillary hair Sparse pubic hair Patellar aplasia Breast hypoplasia Aplasia/Hypoplasia of the patella Bronchomalacia Hypoplastic labia minora Dyspnea Lobar holoprosencephaly Cerebellar vermis hypoplasia Aplasia/Hypoplasia of the corpus callosum Cerebral visual impairment Broad eyebrow Hypogonadism Neonatal hypotonia Severe global developmental delay Wide nose Ectodermal dysplasia Hypotelorism Intellectual disability, profound Split hand Encephalocele Holoprosencephaly Poor head control Hypoplasia of the frontal bone Hypoplasia of the brainstem Diabetes insipidus Non-midline cleft lip Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Hypernatremia Duplication of thumb phalanx Multiple unerupted teeth


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