Frontal bossing, and Hydronephrosis

Diseases related with Frontal bossing and Hydronephrosis

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

Top matches:

High match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Other less relevant matches:

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

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

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

High match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Top 5 symptoms//phenotypes associated to Frontal bossing and Hydronephrosis

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Hydronephrosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Hypertelorism Generalized hypotonia Hearing impairment High palate Agenesis of corpus callosum Micrognathia Clinodactyly of the 5th finger Downslanted palpebral fissures Low-set ears Macrocephaly Depressed nasal bridge Seizures Short nose Long philtrum Brachydactyly Muscular hypotonia Facial asymmetry Microphthalmia Intrauterine growth retardation Thin upper lip vermilion Hydrocephalus Strabismus Short foot Renal hypoplasia Thin vermilion border Short neck Deep philtrum Hypermetropia Patent ductus arteriosus Hypoplasia of the corpus callosum Cleft palate Microcephaly Growth delay Scoliosis Talipes equinovarus Prominent forehead Cataract Finger syndactyly Abnormality of the skeletal system Craniosynostosis Ventriculomegaly Hernia

Rare Symptoms - Less than 30% cases

Autism Abnormal heart morphology Bulbous nose Wide mouth Abnormality of the pinna Telecanthus Prominent nasal bridge Retrognathia Upslanted palpebral fissure Iris coloboma Coarctation of aorta Renal insufficiency Vesicoureteral reflux Schizophrenia Hand polydactyly Foot polydactyly Anteverted nares Highly arched eyebrow Clinodactyly Short palpebral fissure Behavioral abnormality Delayed speech and language development Deeply set eye Hyperactivity High hypermetropia High forehead Failure to thrive Joint laxity Protruding ear Short toe Ureterocele Multicystic kidney dysplasia Elevated hepatic transaminase Shawl scrotum Attention deficit hyperactivity disorder Toe syndactyly Dilatation Ptosis Inguinal hernia Ventricular septal defect Absent septum pellucidum Feeding difficulties Respiratory insufficiency Dandy-Walker malformation Broad forehead Renal cyst Short palm Hip dislocation Abnormality of cardiovascular system morphology Cognitive impairment Omphalocele Bilateral cryptorchidism Bilateral sensorineural hearing impairment Growth hormone deficiency Micromelia Micropenis Hypospadias Sensorineural hearing impairment Postaxial hand polydactyly Wide nose Preaxial hand polydactyly Short chin Thick eyebrow Everted lower lip vermilion Finger clinodactyly Hypertension Intraventricular hemorrhage Obsessive-compulsive behavior Absent proximal finger flexion creases Prominent protruding coccyx Abnormality of the skull base Mesomelic leg shortening Microtia, first degree Nail dystrophy Alveolar ridge overgrowth Syringomyelia Overfolded helix Facial hirsutism Arnold-Chiari type I malformation Stage 5 chronic kidney disease 4-5 toe syndactyly Hypoplastic pubic bone Cutis marmorata Ambiguous genitalia, female Hypoplastic ischia Urinary incontinence Oligohydramnios Hip dysplasia Anterior rounding of vertebral bodies Abnormality of the joint spaces of the elbow Craniofacial asymmetry Small nail Partial absence of the septum pellucidum Metopic synostosis Polymicrogyria Broad face Malar flattening Cerebral atrophy Diabetes mellitus Mandibular prognathia Arachnoid cyst Narrow nose Sparse eyebrow Retinopathy Aplasia/Hypoplasia of the corpus callosum Jaundice Narrow mouth Abnormality of the urinary system Pigmentary retinopathy Polydactyly Overgrowth Motor delay Hypertonia Ureteral atresia Hypertrichosis Lipoma Female pseudohermaphroditism Broad eyebrow Dimple chin Advanced eruption of teeth Abnormality of the helix Widow's peak Sprengel anomaly Muscular hypotonia of the trunk Natal tooth Broad palm Long palpebral fissure Ectopic kidney Preauricular pit Heart murmur Intellectual disability, severe Coloboma Congenital diaphragmatic hernia Trigonocephaly Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Supernumerary nipple Patent foramen ovale Dolichocephaly Abnormal dermatoglyphics Holoprosencephaly Wide anterior fontanel Open mouth Hypotelorism Webbed neck Single transverse palmar crease Atrioventricular block Tetralogy of Fallot Recurrent urinary tract infections Long fingers Hyperechogenic kidneys Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Unilateral renal agenesis Subcortical cerebral atrophy Language impairment Focal impaired awareness seizure Renal hypoplasia/aplasia Horizontal nystagmus Sparse and thin eyebrow Large fontanelles Urethral stenosis Hyperconvex nail Round face Arrhythmia Broad nasal tip Oral cleft Cleft lip Umbilical hernia Proptosis Brachycephaly Pectus excavatum Abnormality of upper lip Atrial septal defect Unicornuate uterus Pancreatic aplasia Pica Humeroradial synostosis Aplasia of the vagina Hypoplasia of the bladder Long clavicles Brittle hair Wrist flexion contracture Renal dysplasia Lethal skeletal dysplasia Uterus didelphys Bifid epiglottis Absent or minimally ossified vertebral bodies Abnormal pelvis bone ossification Urethrovaginal fistula Coarse facial features Pes planus Neonatal hypotonia Poor speech Talipes Smooth philtrum Triangular face Mitral valve prolapse Pointed chin Bifid tongue Broad columella Aggressive behavior Anxiety Depressivity Infra-orbital crease Narrow philtrum Oval face Gastrointestinal dysmotility Narrow palate Mitral stenosis Low hanging columella Inverted nipples Delayed ability to walk Hypoplastic left heart Flat occiput Congenital hepatic fibrosis Ectopic anus Autistic behavior Nephrocalcinosis Metaphyseal dysplasia Adrenal insufficiency Epiphyseal dysplasia Hypercalcemia Hypercalciuria Short long bone Hypocalcemia Adrenal hypoplasia Abnormality of the genital system Muscular dystrophy Respiratory tract infection Postnatal growth retardation Hypogonadism Delayed skeletal maturation Primary adrenal insufficiency Metaphyseal cupping Esophageal atresia Ambiguous genitalia Facial cleft Short thorax Disproportionate short-limb short stature Short ribs Hydrops fetalis Abnormality of the metaphysis Hypoplasia of penis Congenital adrenal hypoplasia Abdominal distention Pulmonary hypoplasia Cleft upper lip Anal atresia Narrow chest Cerebellar hypoplasia Intellectual disability, moderate Abnormal cardiac septum morphology Hydranencephaly Severe short stature Rhizomelia Low posterior hairline Microcornea Blepharophimosis Camptodactyly Posteriorly rotated ears Odontogenic neoplasm Elbow flexion contracture Lip pit Tongue nodules Hamartoma of tongue Lobulated tongue Accessory oral frenulum Broad alveolar ridges Joint contracture of the hand Congenital hip dislocation Pancreatic cysts Hypoplastic scapulae Fibular aplasia Ambiguous genitalia, male Redundant neck skin Hypoplastic ilia Short femur Hypoplastic iliac wing Stenosis of the external auditory canal Narrow palpebral fissure Microglossia Bell-shaped thorax Dislocated radial head Mesomelia 2-3 toe syndactyly Redundant skin Deviation of finger Abnormality of the pancreas Joint hyperflexibility Interrupted aortic arch Alopecia Dystonia Abnormality of the dentition Tremor Ataxia Ankyloglossia Broad hallux phalanx Sparse hair Truncus arteriosus Transposition of the great arteries Broad hallux Broad thumb Sleep disturbance Joint hypermobility Proteinuria Dry skin Hypoplasia of the zygomatic bone Cone-shaped epiphysis Abnormality of the skull Median cleft lip Exocrine pancreatic insufficiency Tarsal synostosis Milia Open bite Chronic otitis media Hypodontia Coarse hair Reduced bone mineral density Abnormality of dental enamel Abnormality of the face Choanal atresia Underdeveloped nasal alae Leukocoria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Retinal dystrophy, related diseases and genetic alterations