Hydrocephalus, and Blepharophimosis

Diseases related with Hydrocephalus and Blepharophimosis

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Blepharophimosis that can help you solving undiagnosed cases.

Top matches:

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Other less relevant matches:

Medium match CAMPOMELIC DYSPLASIA

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Blepharophimosis

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Blepharophimosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Short neck

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Short stature Anteverted nares Short palpebral fissure Polyhydramnios Muscular hypotonia Talipes equinovarus Scoliosis Abnormal facial shape Generalized hypotonia Abnormality of cardiovascular system morphology Frontal bossing Retrognathia Growth delay Severe short stature Microcephaly Microphthalmia Long philtrum Failure to thrive Cryptorchidism Seizures Narrow palpebral fissure High palate Ventricular septal defect Hernia Ptosis Hypospadias Pulmonary hypoplasia Multicystic kidney dysplasia Wide anterior fontanel Toe syndactyly Agenesis of corpus callosum Hip dislocation Cerebellar hypoplasia Clinodactyly of the 5th finger Abnormality of the pinna Camptodactyly Hydronephrosis Brachydactyly Abnormality of the skeletal system Abnormal cardiac septum morphology Thin vermilion border Feeding difficulties Posteriorly rotated ears Atrial septal defect Intrauterine growth retardation Ventriculomegaly Midface retrusion Prominent forehead Proptosis Respiratory distress Telecanthus Absent septum pellucidum Kyphosis Downturned corners of mouth Abnormal heart morphology Tracheomalacia Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Short palm Postnatal growth retardation Wide nose Talipes Kyphoscoliosis Respiratory insufficiency Narrow chest Respiratory failure Conductive hearing impairment Narrow mouth Congenital diaphragmatic hernia Tibial bowing Skeletal muscle atrophy Anencephaly Arrhythmia Downslanted palpebral fissures Pierre-Robin sequence Male pseudohermaphroditism Hypoplasia of the corpus callosum Cardiomyopathy Fibular hypoplasia Hydranencephaly Cystic hygroma Syndactyly Dandy-Walker malformation Thoracic hypoplasia Pterygium Laryngomalacia Short long bone Short chin Bowing of the long bones Flexion contracture Ambiguous genitalia Camptodactyly of finger Arthrogryposis multiplex congenita High, narrow palate Thin ribs Redundant neck skin Anteriorly placed anus Microretrognathia Deeply set eye Strabismus Hypopigmentation of the skin Inguinal hernia Hyperactivity Micropenis Aggressive behavior Joint hyperflexibility Finger syndactyly Attention deficit hyperactivity disorder Hypogonadism Specific learning disability Small hand Joint contracture of the hand Abnormal form of the vertebral bodies Malar flattening Short nose Delayed speech and language development Abnormality of the penis Pyloric stenosis Epispadias Premature birth Round face Colpocephaly Umbilical hernia Coarse facial features Intellectual disability, severe Congenital contracture Bilateral single transverse palmar creases Hypoplastic iliac wing Hypoplastic scapulae Hypopigmented skin patches Broad thumb Dilated cardiomyopathy Zollinger-Ellison syndrome Abnormality of the upper limb Inferior vermis hypoplasia Abnormality of the thumb Skin rash Corneal opacity Abnormality of the cerebellar vermis Coloboma Erythema Hypertrophic cardiomyopathy Dyspnea Glaucoma White forelock White hair Congenital ptosis Nail dystrophy Abnormality of skin pigmentation Distal arthrogryposis Tachycardia Postaxial foot polydactyly Abnormal eyebrow morphology Short tibia Blue irides Heterochromia iridis Abnormality of metabolism/homeostasis Abnormality of the upper urinary tract Anal atresia Primitive reflex Large earlobe Limb joint contracture Abnormality of the lower limb Visual loss Cataract Blindness Synostosis of joints Aganglionic megacolon White eyelashes Horseshoe kidney Postaxial hand polydactyly Sandal gap Macrodontia Hypoplasia of the maxilla Abnormality of the metacarpal bones Anosmia Elbow dislocation Foot oligodactyly Cleft upper lip White eyebrow Premature graying of hair Tarsal synostosis Wide nasal bridge Intestinal pseudo-obstruction True anophthalmia Camptodactyly of 2nd-5th fingers Venous insufficiency Lacrimal gland hypoplasia Aplasia/Hypoplasia involving the skeletal musculature Fixed facial expression Iris coloboma Synostosis of carpal bones Abnormal anatomic location of the heart Hand oligodactyly Hypoplasia of the premaxilla Optic atrophy Arrhinencephaly Intellectual disability, moderate Low-set, posteriorly rotated ears Posterior embryotoxon Retinal dystrophy Autism Sleep disturbance Short foot Highly arched eyebrow Thick vermilion border Scarring Sparse hair Autistic behavior Feeding difficulties in infancy Thin upper lip vermilion Pes planus Brachycephaly Short metacarpal Upslanted palpebral fissure Hyporeflexia Obesity Behavioral abnormality Cognitive impairment Pain Neoplasm Anal fistula Asymmetric, linear skin defects Cleft earlobe Broad nasal tip Underdeveloped nasal alae Vitritis Obsessive-compulsive behavior Pain insensitivity Abnormal aortic morphology Broad columella Subvalvular aortic stenosis Broad face Renal neoplasm Low hanging columella Overweight Supernumerary nipple Mild short stature Self-injurious behavior Wide intermamillary distance Nephroblastoma Short metatarsal Aortic valve stenosis Short toe Sparse and thin eyebrow Short phalanx of finger Stereotypy Broad-based gait Sparse scalp hair Narrow forehead Eczema Abnormality of the rectum Histiocytoid cardiomyopathy Pigmentary retinopathy Dermal atrophy Hypoplasia of the uterus Dysphasia Aphasia Albinism Preauricular pit Tricuspid regurgitation Ventricular fibrillation Anophthalmia Clitoral hypertrophy Patent foramen ovale Mutism Abnormality of the ear Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Abnormality of retinal pigmentation Amblyopia Mitral regurgitation Status epilepticus Mitral valve prolapse Congenital glaucoma Aplasia/Hypoplasia of the skin Orbital cyst Abnormal nasolacrimal system morphology Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormality of earlobe Aplasia cutis congenita Chordee Periventricular leukomalacia Abnormality of the testis Supraventricular tachycardia Echolalia Retinal dysplasia Abnormal eyelid morphology Ocular albinism Sclerocornea Abnormal eyelash morphology Submucous cleft hard palate Restlessness Full cheeks Abnormality of the sternum Mesomelic leg shortening Flat face Apnea Skeletal dysplasia High forehead Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Abnormality of the skull base Microtia, first degree Webbed neck Alveolar ridge overgrowth Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Hypoplastic ischia Long clavicles Humeroradial synostosis Wrist flexion contracture Recurrent fractures Depressed nasal ridge Ambiguous genitalia, male Skin dimples Small abnormally formed scapulae Hypoplastic cervical vertebrae Hypoplasia of olfactory tract Tracheobronchomalacia Laryngotracheomalacia Abnormal external genitalia Abnormality of the sense of smell Neonatal short-limb short stature Narrow iliac wings Small face Disproportionate short-limb short stature 11 pairs of ribs Sex reversal Shallow orbits Glossoptosis Gonadal dysgenesis Femoral bowing Bilateral talipes equinovarus Bowing of the legs Relative macrocephaly Fibular aplasia Hypoplastic ilia Hypoplastic inferior ilia Spasticity External ear malformation Flat occiput Optic nerve hypoplasia Increased intracranial pressure Plagiocephaly Facial asymmetry Craniosynostosis Protruding ear Hypertonia Premature rupture of membranes Anterior plagiocephaly Everted upper lip vermilion Maternal diabetes Short columella Long palpebral fissure Deep philtrum Tall stature Overgrowth Thick eyebrow Mandibular prognathia Arnold-Chiari type I malformation Stomatocytosis Short femur Rhizomelia Stenosis of the external auditory canal Microglossia Bell-shaped thorax Dislocated radial head Mesomelia 2-3 toe syndactyly Redundant skin Congenital hip dislocation Elbow flexion contracture Low posterior hairline Dimple chin Microcornea Posterior plagiocephaly Pansynostosis Diminished ability to concentrate Round ear Prominent scalp veins Ectopic posterior pituitary Craniofacial dysostosis Lambdoidal craniosynostosis Absent sternal ossification Shortening of all phalanges of fingers Decreased muscle mass Entropion Pectus excavatum Myopathy Epicanthus Motor delay Laryngeal hypoplasia Bronchomalacia Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Abnormality of the larynx Abnormality of the kidney Cleft soft palate Tracheal stenosis Double outlet right ventricle Hypoplastic left heart Bilateral cryptorchidism Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Sparse eyelashes Areflexia Respiratory tract infection Pachygyria Situs inversus totalis Hydroureter Dextrocardia Metatarsus adductus Mask-like facies Hypoplasia of the brainstem Myotonia Radioulnar synostosis Abnormality of the urinary system Renal hypoplasia/aplasia Abnormality of the face Joint stiffness Renal dysplasia Renal hypoplasia Interphalangeal joint contracture of finger Peripheral demyelination Renal agenesis Bifid uvula Arachnodactyly Muscular dystrophy Pectus carinatum Large fontanelles Abnormality of the genital system Anterior tibial bowing Rocker bottom foot Depressed nasal tip Fetal akinesia sequence Adrenal hypoplasia Abnormality of abdomen morphology Fatigable weakness Slender long bone Hypokinesia Generalized amyotrophy Multiple joint contractures Akinesia Overlapping fingers Abnormality of pelvic girdle bone morphology Coarctation of aorta Decreased fetal movement Small for gestational age Polydactyly Edema Peripheral neuropathy Shortening of all phalanges of the toes Poorly ossified cervical vertebrae Excessive daytime somnolence Ulnar deviation of the hand Cerebellar vermis hypoplasia Dilatation Small nail Oligohydramnios Intestinal malrotation Abdominal distention Postural instability Hirsutism Pulmonic stenosis Patent ductus arteriosus Clinodactyly Vomiting Cavum septum pellucidum Dysphagia Intestinal hypoplasia Absent palmar crease Small placenta Short umbilical cord Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Self-biting


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