Downslanted palpebral fissures, and Ambiguous genitalia

Diseases related with Downslanted palpebral fissures and Ambiguous genitalia

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

Top matches:

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

High match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

High match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Other less relevant matches:

High match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

PALLISTER-HALL SYNDROME Is also known as hypothalamic hamartoblastoma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PALLISTER-HALL 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

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Ambiguous genitalia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Short nose

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Syndactyly Micropenis Depressed nasal bridge Ventriculomegaly Toe syndactyly Frontal bossing Atrial septal defect Patent ductus arteriosus Hearing impairment Failure to thrive Spasticity High palate Brachydactyly Posteriorly rotated ears Coarctation of aorta Hypertonia Clinodactyly Severe short stature Polydactyly Muscular hypotonia Ptosis Abnormal heart morphology Macrocephaly Low-set, posteriorly rotated ears Aplasia/Hypoplasia of the corpus callosum Talipes Cerebellar hypoplasia Talipes equinovarus Hypospadias Hypoplasia of the corpus callosum Optic atrophy Abnormality of the skeletal system Retrognathia Abnormality of cardiovascular system morphology Microphthalmia Clinodactyly of the 5th finger Cataract Limb undergrowth Upslanted palpebral fissure Rhizomelia Proptosis Gingival overgrowth Postaxial hand polydactyly Postaxial polydactyly Finger clinodactyly Bulbous nose Long philtrum Wide nose Microretrognathia Thin upper lip vermilion Delayed skeletal maturation Nystagmus Prominent forehead Hypodontia Intestinal malrotation Increased number of teeth Abnormal lung lobation Atrioventricular canal defect Holoprosencephaly Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Glaucoma Bifid uvula Ambiguous genitalia, male Bilateral talipes equinovarus Clitoral hypertrophy Metatarsus adductus Cupped ear Renal hypoplasia/aplasia Abnormal cardiac septum morphology Overlapping toe Unilateral renal agenesis Nail dysplasia Bifid tongue Renal agenesis Micromelia Alveolar ridge overgrowth Oligohydramnios Apnea Broad thumb Hip dislocation Hydrocephalus Dental crowding Trigonocephaly Precocious puberty Hemivertebrae Scrotal hypoplasia Feeding difficulties Flexion contracture Strabismus Abnormality of cholesterol metabolism Wide mouth Depressed nasal ridge Scoliosis Polyhydramnios Multicystic kidney dysplasia Mesomelia Short palpebral fissure Aplasia/Hypoplasia of the cerebellum Dandy-Walker malformation Rib fusion Increased nuchal translucency Thick upper lip vermilion Postaxial foot polydactyly Biparietal narrowing Arnold-Chiari malformation Hyperbilirubinemia Hypoplasia of penis Mesomelic short stature Sloping forehead Narrow forehead Microglossia Short neck Hepatosplenomegaly Inguinal hernia Myoclonus Cerebral atrophy Choanal atresia Nevus flammeus Hypertension Umbilical hernia Hydronephrosis 2-4 toe syndactyly Broad toe Double outlet right ventricle High forehead Prominent metopic ridge Small for gestational age Long eyelashes Finger syndactyly Congenital diaphragmatic hernia Intellectual disability, moderate Smooth philtrum Anal atresia Muscular hypotonia of the trunk Cleft lip Hypogonadism Gastroesophageal reflux Agenesis of corpus callosum Telecanthus Abnormality of digit Sensorineural hearing impairment Specific learning disability Hernia Respiratory insufficiency Intellectual disability, severe Thin vermilion border Sex reversal Pectus excavatum Dystonia Laryngeal cleft Bilateral renal agenesis Progressive microcephaly Fasciculations Hypergonadotropic hypogonadism Oculomotor apraxia Abnormal prolactin level Bilateral postaxial polydactyly Prominent supraorbital ridges Hypothalamic hamartoma Flat occiput Radial head subluxation Central adrenal insufficiency Osteochondroma Hypoplasia of the brainstem Hydrometrocolpos Tracheal stenosis Bifid epiglottis Esotropia Aplasia/Hypoplasia of the vagina Edema Fever Gelastic seizures Chorea Polydactyly affecting the 4th finger Polydactyly affecting the 3rd finger Nevus Auricular tag Supernumerary metacarpal bones Delayed myelination 3-4 finger cutaneous syndactyly Midline facial capillary hemangioma Accessory oral frenulum Paroxysmal bursts of laughter Aplasia/hypoplasia of the uterus Recurrent upper and lower respiratory tract infections Abnormal basal ganglia MRI signal intensity Mesoaxial polydactyly Hypoplasia of the pons Panhypopituitarism Thyroid hypoplasia Decreased testicular size Ectopic kidney Large for gestational age Omphalocele Wormian bones Short femoral neck Neurodevelopmental delay Anteriorly placed anus Atresia of the external auditory canal Renal dysplasia Short clavicles Hypopituitarism Microtia Flat acetabular roof Cervical agenesis Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Absent uvula Hypoplastic sacrum Natal tooth Oligodactyly Secondary growth hormone deficiency Radial bowing Arrhinencephaly Facial grimacing Abnormal corpus callosum morphology Gonadotropin deficiency Adrenocorticotropic hormone deficiency Diarrhea Microphallus Pituitary hypothyroidism Short 4th metacarpal Olivopontocerebellar hypoplasia Tetralogy of Fallot Renal insufficiency Adrenal hypoplasia Coarse facial features Scaphocephaly Distal arthrogryposis Astigmatism Primary adrenal insufficiency Tapered finger Postural instability Vesicoureteral reflux Vomiting Autism Behavioral abnormality Hammertoe Ulnar deviation of finger Hyperkalemia Median cleft palate Adrenal insufficiency 2-3 toe syndactyly Cutis marmorata Hip subluxation Thoracic hemivertebrae Increased serum testosterone level Bifid scrotum Talipes calcaneovalgus Gastroschisis Periventricular gray matter heterotopia Hypoplasia of the frontal lobes Abnormality of the gallbladder Proximal placement of thumb Self-injurious behavior Hyponatremia Pyloric stenosis Poor suck Abnormality of the urinary system Reduced number of teeth Broad alveolar ridges Ectopic calcification Abnormality of the metacarpal bones Gastrointestinal dysmotility Severe failure to thrive Male pseudohermaphroditism Self-mutilation Upper limb undergrowth Excessive daytime somnolence Overlapping fingers Breech presentation Bicornuate uterus Cholestatic liver disease Abnormality of the larynx Abnormal renal morphology Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia affecting the eye Abnormal eyelash morphology Abnormal localization of kidney Severe intrauterine growth retardation Hypocholesterolemia Epiphyseal stippling Decreased circulating aldosterone level Hypopigmentation of hair Advanced eruption of teeth Ureteropelvic junction obstruction Optic nerve hypoplasia Abnormal dermatoglyphics Kyphosis Pulmonary hypoplasia Wide intermamillary distance Irritability Webbed neck Spastic paraplegia Premature birth Abnormality of the cerebral white matter Renal cyst Hypopigmentation of the skin Sleep disturbance Iris coloboma Attention deficit hyperactivity disorder Absent speech Autistic behavior Feeding difficulties in infancy Abnormality of the kidney Aggressive behavior Hypoglycemia Sclerocornea Hyperactivity Gliosis Constipation Recurrent infections Macrotia Peripheral demyelination Hypercholesterolemia Abnormality of limbs Septate vagina Abnormality of dental enamel Short toe Short thumb Amblyopia Sleep-wake cycle disturbance Aganglionic megacolon Severe photosensitivity Opsoclonus Facial capillary hemangioma Abnormality of the genital system Eczema Elevated 7-dehydrocholesterol Abnormal form of the vertebral bodies Muscle weakness Split hand Hyperreflexia Recurrent otitis media Cutaneous photosensitivity Renal hypoplasia Intellectual disability, profound Abnormality of the ribs Decreased fetal movement Abnormality of dental morphology Cafe-au-lait spot Aplasia/Hypoplasia involving the metacarpal bones High anterior hairline Frontal hirsutism Enlarged epiphyses Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Anteverted ears Congenital microcephaly Cutaneous syndactyly of toes Broad columella Echolalia Low hanging columella Narrow mouth Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Narrow nasal bridge Aphasia Dysphasia Supernumerary nipple Short middle phalanx of finger Mutism Splenomegaly Rigidity Cutaneous syndactyly Aplasia/Hypoplasia of the skin Abnormality of earlobe Gingival fibromatosis Anomalous pulmonary venous return Generalized osteosclerosis Abnormality of the nose Abnormal cortical gyration Large earlobe Osteopetrosis Submucous cleft hard palate Absent septum pellucidum Partial agenesis of the corpus callosum Arthrogryposis multiplex congenita Abnormality of neuronal migration Dermal atrophy Relative macrocephaly Lissencephaly Muscle stiffness Increased bone mineral density Joint contracture of the hand Pachygyria Status epilepticus Polymicrogyria Widely spaced teeth Short chin Ambiguous genitalia, female Bilateral cleft lip and palate Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Chylothorax Abnormality of the pharynx Volvulus Pulmonary artery atresia Widow's peak Hydrocele testis Aspiration pneumonia Exstrophy Bilateral cleft lip Abnormality of the voice Aspiration Large fontanelles Recurrent urinary tract infections Oral cleft Cleft upper lip Pectus carinatum Pneumonia Dysphagia Recurrent aspiration pneumonia Osteoma Generalized hirsutism Hirsutism Bilateral single transverse palmar creases Postnatal microcephaly Decreased body weight Hypertrichosis Fine hair Small nail Microdontia Underdeveloped nasal alae Limitation of joint mobility Single transverse palmar crease Thick eyebrow Posterior pharyngeal cleft Paraplegia Synophrys Neurological speech impairment Broad forehead Prominent nasal bridge Short philtrum Sparse hair Postnatal growth retardation Brachycephaly Cerebellar atrophy Visual impairment Total anomalous pulmonary venous return Macrogyria Forearm undergrowth Subvalvular aortic stenosis Midface retrusion Malar flattening Anemia Pain Vaginal neoplasm Premature chromatid separation Epidermoid cyst Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Intestinal polyposis Pulmonic stenosis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Acute lymphoblastic leukemia Abnormality of immune system physiology Multiple cafe-au-lait spots Colon cancer Nephroblastoma Myelodysplasia Abnormality of vision Abdominal pain Confusion Aortic regurgitation Long palpebral fissure Triangular mouth Renal duplication Clitoral hypoplasia Delayed eruption of permanent teeth Normocytic anemia Short middle phalanx of the 5th finger Vaginal atresia Hypoplastic labia majora Missing ribs Thoracolumbar scoliosis Vertebral fusion Flat face External genital hypoplasia Delayed cranial suture closure Radial deviation of finger Disproportionate short-limb short stature Abnormal vertebral morphology Wide anterior fontanel Dental malocclusion Macroglossia Small hand Short palm Sleep apnea Osteolysis Hypoplastic nasal bridge Cholestasis Generalized osteoporosis Acanthocytosis Intrahepatic cholestasis Myelomeningocele Meningocele Pathologic fracture Portal hypertension Elevated alkaline phosphatase Opacification of the corneal stroma Horseshoe kidney Cerebral calcification Increased mean platelet volume Full cheeks Microcornea Downturned corners of mouth Hepatic failure Abnormality of the liver Conductive hearing impairment Elevated hepatic transaminase Osteoporosis Thrombocytopenia Hepatomegaly Butterfly vertebrae Neural tube defect Growth hormone deficiency Deeply set eye Triangular face Ascites Long face Abnormality of skin pigmentation Dolichocephaly Muscular dystrophy Corneal opacity Blepharophimosis Craniosynostosis Abnormality of the eye Hypothyroidism Anisopoikilocytosis Intellectual disability, mild Cognitive impairment Neoplasm Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormal platelet morphology Cerebellar cortical atrophy Gait imbalance


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