Depressed nasal bridge, and Hypoplasia of penis

Diseases related with Depressed nasal bridge and Hypoplasia of penis

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


Top matches:

High match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

High match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

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

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Other less relevant matches:

High match AUTOSOMAL DOMINANT OMODYSPLASIA


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

High match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

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

High match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


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

High match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

High match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Hypoplasia of penis

Symptoms // Phenotype % cases
Micropenis Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short nose Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hydronephrosis Abnormality of the skeletal system Skeletal dysplasia Hydrocephalus Micromelia Pulmonary hypoplasia Global developmental delay Cleft lip Micrognathia Hypospadias Abnormal facial shape Delayed skeletal maturation Midface retrusion Growth delay Short neck Frontal bossing

Rare Symptoms - Less than 30% cases


Anal atresia Ambiguous genitalia Atrial septal defect Tracheoesophageal fistula Leukemia Seizures Wide mouth Long philtrum Malar flattening Severe short stature Neoplasm Abnormality of the voice Short ribs Hearing impairment Hernia Sensorineural hearing impairment Low-set ears Intrauterine growth retardation Wide nasal bridge Bifid scrotum Gynecomastia Hypogonadism Abnormality of the dentition Bilateral cryptorchidism Growth hormone deficiency Postaxial polydactyly Camptodactyly Depressed nasal tip Wide intermamillary distance Polydactyly Oral cleft Short stature Macrotia Hypoplasia of the radius Microtia Full cheeks Thoracic hypoplasia Molar tooth sign on MRI Renal hypoplasia Cafe-au-lait spot Bone marrow hypocellularity Anencephaly Upper limb undergrowth Deeply set eye Pes planus Thoracic dysplasia Retinal coloboma Aplastic clavicle Short upper lip Esophageal atresia Intellectual disability Absent speech Upslanted palpebral fissure Absent thumb Congenital diaphragmatic hernia Preaxial polydactyly Abnormality of chromosome stability Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Generalized hypotonia Respiratory insufficiency Forearm undergrowth Edema Rectovaginal fistula Hydrops fetalis Hyporeflexia Agenesis of corpus callosum Polyhydramnios Abnormality of the pinna Coloboma Narrow chest Polymicrogyria Aggressive behavior Chromosome breakage Cerebellar vermis hypoplasia Microphthalmia Nail dystrophy Anemia Conductive hearing impairment Generalized osteosclerosis Hypointensity of cerebral white matter on MRI Brachydactyly Thickened calvaria Downslanted palpebral fissures Anteverted nares Clinodactyly Proptosis High forehead Umbilical hernia Thin upper lip vermilion Short distal phalanx of finger Triangular mouth Dental malocclusion Otitis media Overgrowth Limb undergrowth Broad thumb Dental crowding Short phalanx of finger Gingival overgrowth Increased bone mineral density Mesomelia Oligodontia Narrow naris Mesomelic short stature Otitis media with effusion Increased body weight Chronic otitis media Synophrys Poor speech Dry skin Thin vermilion border Hirsutism Downturned corners of mouth Short foot Hypopigmentation of the skin Nail dysplasia Low posterior hairline Generalized hirsutism Regional abnormality of skin Prominent supraorbital ridges Broad hallux Myeloid leukemia Acute myeloid leukemia Broad neck Echolalia Broad face Spotty hypopigmentation Narrow nasal tip Hypercalcemia Abnormal hair whorl Almond-shaped palpebral fissure Epiphyseal dysplasia Occipital encephalocele Hypercalciuria Non-obstructive azoospermia Sparse body hair Secondary amenorrhea Generalized joint laxity Male hypogonadism Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Absence of pubertal development Impotence Abnormality of body height Increased female libido Ventricular septal defect Abnormality of metabolism/homeostasis Posteriorly rotated ears Oligohydramnios Abnormality of the hair Scrotal hypoplasia Bilateral talipes equinovarus Hydroureter Decreased fertility Hypoplasia of the uterus Congenital sensorineural hearing impairment Maternal diabetes Adrenocorticotropic hormone deficiency Pain Abdominal pain Cleft upper lip Hypotelorism Depressed nasal ridge Holoprosencephaly Diabetes insipidus High pitched voice Hypopituitarism Poor appetite Panhypopituitarism Microphallus Azoospermia Anterior pituitary hypoplasia Bilateral postaxial polydactyly Ectopic posterior pituitary Depressivity Osteoporosis Osteopenia Anxiety Delayed puberty Decreased testicular size Primary amenorrhea Hypogonadotrophic hypogonadism Male pseudohermaphroditism Abnormality of the endocrine system Short long bone Glioma Hypoplastic distal humeri Limited elbow flexion/extension Abnormality of cardiovascular system morphology Abnormal heart morphology Hip dislocation Postaxial hand polydactyly Renal dysplasia Hamartoma Median cleft lip Microglossia Anterior hypopituitarism Hypothalamic hamartoma Bifid nasal tip Scoliosis Muscular hypotonia Prominent forehead Postnatal growth retardation Respiratory tract infection Craniosynostosis Muscular dystrophy Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Nephrocalcinosis Rhizomelic arm shortening Large forehead Cystic renal dysplasia Rectal fistula 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 Fetal pyelectasis Incomplete male pseudohermaphroditism Short 1st metacarpal Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Short palm Hypoplasia of the maxilla Rhizomelia Disproportionate short-limb short stature Elbow dislocation Dislocated radial head Short humerus Patellar dislocation Hypoplastic sacrum



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