Hydrocephalus, and Micropenis

Diseases related with Hydrocephalus and Micropenis

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

Top matches:

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Other less relevant matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Micropenis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Abnormal facial shape Global developmental delay Postaxial polydactyly Hypertelorism Polydactyly Occipital encephalocele Generalized hypotonia Hydronephrosis Heterotopia Micrognathia Anencephaly Retrognathia Holoprosencephaly Short neck Neoplasm Macrocephaly Pulmonary hypoplasia Microcephaly Intellectual disability Abnormality of the skeletal system Abnormality of the pinna Micromelia Oral cleft Cleft lip Midface retrusion

Rare Symptoms - Less than 30% cases

Strabismus Edema Atrial septal defect Upper limb undergrowth Short nose Microphthalmia Respiratory distress Absent septum pellucidum Hyporeflexia Hypoplasia of the brainstem Lissencephaly Hypotelorism Renal dysplasia Hypospadias Molar tooth sign on MRI Encephalocele Dandy-Walker malformation Spasticity Scrotal hypoplasia Ventriculomegaly Depressed nasal tip Malar flattening Wide nasal bridge Renal cyst Short ribs Postaxial hand polydactyly Adducted thumb Increased intracranial pressure Aplasia/Hypoplasia of the corpus callosum Cerebellar hypoplasia Median cleft lip Microtia Talipes equinovarus Preauricular skin tag Sloping forehead Growth hormone deficiency Dental malocclusion Hemivertebrae Optic nerve hypoplasia Patent foramen ovale Coarctation of aorta Hypoplasia of the maxilla Pleural effusion Pulmonic stenosis Hypertrichosis Headache Recurrent infections Depressivity Pneumonia Respiratory failure High forehead Carcinoma Apnea Nausea Delayed eruption of teeth Macroglossia Sleep apnea Short philtrum Loss of consciousness Papilledema Broad neck Choanal stenosis Broad ribs Osteosarcoma Choroid plexus papilloma Choroid plexus carcinoma Short stature Ventricular septal defect Hand clenching Macrotia Papilloma Large forehead Heart murmur Camptodactyly Flexion contracture High palate Anteverted nares Behavioral abnormality Absent speech Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Cystic hygroma Arthrogryposis multiplex congenita Diastolic heart murmur Hypermetropia Abnormality of eye movement Pericardial effusion Overlapping toe Abnormality of the foot Webbed neck Apraxia Oculomotor apraxia Plagiocephaly Cutaneous syndactyly Cataract Asymmetric ventricles Anophthalmia Single median maxillary incisor Neurodevelopmental delay Partial agenesis of the corpus callosum Bilateral cleft lip Skin tags Bilateral cleft lip and palate Abnormal cortical gyration Panhypopituitarism Anterior pituitary hypoplasia Median cleft lip and palate Wide cranial sutures Semilobar holoprosencephaly Agenesis of incisor Cerebellar dysplasia Prominent antihelix Alobar holoprosencephaly Thoracic hemivertebrae Hypoplasia of the premaxilla Underdeveloped tragus Overlapping fingers Single naris Short hard palate Anterior pituitary agenesis Vomiting Polymicrogyria Feeding difficulties Exotropia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Hearing impairment Ptosis Epicanthus Frontal bossing Patent ductus arteriosus Narrow palpebral fissure Cortical dysplasia Sacral dimple Nystagmus Hyperreflexia Intellectual disability, severe Hypertonia Babinski sign Coarse facial features Joint stiffness Spastic paraplegia Retinal dysplasia Congenital muscular dystrophy Bilateral cryptorchidism Shield chest Brachydactyly Syndactyly Deeply set eye Cleft upper lip Wide intermamillary distance Ambiguous genitalia Sandal gap Adrenal hypoplasia Barrel-shaped chest Ulnar deviation of the hand Severe muscular hypotonia Microphallus Ulnar deviation of the hand or of fingers of the hand Cognitive impairment Hypoplasia of the corpus callosum Blindness Elevated serum creatine phosphokinase Muscular dystrophy Decreased testicular size Opacification of the corneal stroma Small hand Hemiplegia/hemiparesis Hypoplastic sacrum Renal hypoplasia Retinal coloboma Aplastic clavicle Short upper lip Growth delay Anemia Intrauterine growth retardation Leukemia Anal atresia Full cheeks Cafe-au-lait spot Thoracic hypoplasia Bone marrow hypocellularity Hypoplasia of the radius Tracheoesophageal fistula Absent thumb Esophageal atresia Chromosome breakage Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Thoracic dysplasia Preaxial polydactyly Aqueductal stenosis Microglossia Visceromegaly Oxycephaly Esodeviation Flexion contracture of thumb Abnormality of cardiovascular system morphology Abnormal heart morphology Skeletal dysplasia Hip dislocation Hamartoma Anterior hypopituitarism Hydrops fetalis Glioma Hypothalamic hamartoma Respiratory insufficiency Hernia Polyhydramnios Coloboma Narrow chest Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Kinked brainstem


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