Depressed nasal bridge, and Hypospadias

Diseases related with Depressed nasal bridge and Hypospadias

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

Top matches:

High match PENILE AGENESIS

Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Other less relevant matches:

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

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

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Hypospadias

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Malar flattening Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Failure to thrive Intellectual disability Growth delay Long philtrum Abnormality of the skeletal system Frontal bossing Epicanthus Scoliosis Low-set ears Seizures Hypertelorism Micropenis Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Abnormal facial shape Irritability Abnormality of cardiovascular system morphology Midface retrusion Mandibular prognathia Severe short stature Hypoplasia of the maxilla Short stature Hypocalcemia Bilateral sensorineural hearing impairment Growth hormone deficiency Respiratory tract infection Bilateral cryptorchidism Sensorineural hearing impairment Hypogonadism Prominent forehead Delayed skeletal maturation Delayed speech and language development Wide nasal bridge Macrocephaly Autism Thin upper lip vermilion Smooth philtrum Hearing impairment Hyperlordosis Abnormal heart morphology Ambiguous genitalia Hydronephrosis Atrial septal defect Bifid scrotum Posteriorly rotated ears Hypoplasia of penis Confusion Cerebral atrophy Encephalopathy Polydactyly Carcinoma Mental deterioration Low urinary cyclic AMP response to PTH administration Stroke Narrow vertebral interpedicular distance Lethargy Cellular immunodeficiency Hepatic failure Vomiting Postaxial polydactyly Cerebral venous thrombosis Elevated calcitonin Hypoplastic vertebral bodies Red hair Pseudohypoparathyroidism Coma Gliosis Elevated circulating parathyroid hormone level Hyperphosphatemia Aciduria Thick lower lip vermilion Headache Spasticity Edema Hypoplasia of the iris Telecanthus Abnormal cardiac septum morphology Everted lower lip vermilion Absent/hypoplastic paranasal sinuses Hypodontia Microdontia Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Redundant skin Anal stenosis Aniridia Posterior embryotoxon Ectopia pupillae Peripheral neuropathy Concave nasal ridge Peters anomaly Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Rieger anomaly Aplasia/Hypoplasia of the iris Ureteral stenosis Hypoplasia of the nasal bone Hypoplastic iris stroma Retinal vein occlusion Ataxia Hyperammonemia Pancreatitis Acute hepatic failure Abnormality of chromosome stability Sinusitis Umbilical hernia Malabsorption Flat face Neurodegeneration Round face Macroglossia Sepsis Hyperactivity Diabetes mellitus Obesity Decreased antibody level in blood Otitis media Bronchiectasis Lymphopenia Short metacarpal Recurrent pneumonia Malnutrition Combined immunodeficiency Bronchitis Protruding tongue Shawl scrotum Agammaglobulinemia Brachydactyly Communicating hydrocephalus Chronic bronchitis Impaired T cell function Abnormality of neutrophils Decrease in T cell count High forehead Recurrent respiratory infections Alkalosis Cone-shaped epiphysis Episodic ataxia Cerebral edema Fair hair Episodic vomiting Wide nasal base Blue irides Spinal canal stenosis Congenital hypothyroidism Paranoia Oroticaciduria Respiratory alkalosis Mild short stature Hypoargininemia Short metatarsal Pneumonia Increased intracranial pressure Protein avoidance Accelerated skeletal maturation Short toe Hyperglutaminemia Short phalanx of finger Proptosis Specific learning disability Low plasma citrulline Anemia Diarrhea Immunodeficiency Recurrent infections Episodic ammonia intoxication Clinodactyly of the 5th finger Glaucoma Large forehead Absent penis Urethral atresia, male Urethral fistula Skeletal dysplasia Short palm Rhizomelia Disproportionate short-limb short stature Elbow dislocation Dislocated radial head Short humerus Patellar dislocation Short 1st metacarpal Bifid nasal tip Incomplete male pseudohermaphroditism Rhizomelic arm shortening Hypoplastic distal humeri Limited elbow flexion/extension Cataract Visual impairment Hypoplasia of the corpus callosum Syndactyly Macrotia Retrognathia Low-set, posteriorly rotated ears Toe syndactyly Dry skin Cloacal abnormality Rectal fistula Cutaneous photosensitivity Decreased fertility Ventricular septal defect Abnormality of metabolism/homeostasis Anal atresia Pulmonary hypoplasia Oligohydramnios Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Tracheoesophageal fistula Bilateral talipes equinovarus Hydroureter Male pseudohermaphroditism Fetal pyelectasis Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Unilateral renal hypoplasia Polymicrogyria Cerebral visual impairment Patent ductus arteriosus Thick eyebrow Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Short neck Pectus excavatum Pes planus Small for gestational age Hip dislocation Dolichocephaly Joint hypermobility Triangular face Epiphyseal dysplasia Decreased testicular size Short ribs Pointed chin Coxa vara Scapular winging Spina bifida occulta Short thorax Slender long bone Short 5th finger Hypoplastic pelvis Increased vertebral height Hernia Clinodactyly Adrenal insufficiency Hypercalcemia Bicuspid aortic valve Dental crowding Optic nerve hypoplasia Profound global developmental delay Microcephaly Strabismus Myopia Kyphosis Upslanted palpebral fissure Brachycephaly Synophrys Poor speech Astigmatism Downturned corners of mouth Low anterior hairline Hypercalciuria Drooling Obsessive-compulsive behavior Slender finger Impaired mastication Muscular hypotonia Cleft palate Postnatal growth retardation Craniosynostosis Muscular dystrophy Micromelia Abnormality of the genital system Nephrocalcinosis Short long bone Congenital craniofacial dysostosis


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