Depressed nasal bridge, and Micropenis

Diseases related with Depressed nasal bridge and Micropenis

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

Top matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

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

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

Other less relevant matches:

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

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

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 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

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 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

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

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

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Short neck Delayed skeletal maturation Malar flattening Ambiguous genitalia Hydronephrosis Pulmonary hypoplasia Midface retrusion Micromelia Bifid scrotum Global developmental delay Hydrocephalus Macrocephaly Frontal bossing

Rare Symptoms - Less than 30% cases

Leukemia Intrauterine growth retardation Anal atresia Tracheoesophageal fistula Seizures Abnormal facial shape Polydactyly Abnormality of the voice Hypogonadism Atrial septal defect Cleft lip Gynecomastia Oral cleft Postaxial polydactyly Growth hormone deficiency Abnormality of the endocrine system Bilateral cryptorchidism Wide intermamillary distance Camptodactyly Scrotal hypoplasia Oligohydramnios Low-set ears Neoplasm Abnormality of metabolism/homeostasis Skeletal dysplasia Hypoplasia of penis Abnormality of the pinna Craniosynostosis Abnormality of the genital system Short ribs Abnormality of the skeletal system Scoliosis Micrognathia Hypercalcemia Epiphyseal dysplasia Myeloid leukemia Hypercalciuria Short long bone Nephrocalcinosis Hypocalcemia Acute myeloid leukemia Bilateral sensorineural hearing impairment Broad neck Metaphyseal dysplasia Echolalia Muscular dystrophy Broad face Spotty hypopigmentation Respiratory tract infection Abnormal hair whorl Almond-shaped palpebral fissure Adrenal insufficiency Upslanted palpebral fissure Broad hallux Adrenal hypoplasia Pes planus Deeply set eye Absent speech Regional abnormality of skin Intellectual disability Aggressive behavior Wide mouth Congenital adrenal hypoplasia Nail dystrophy Metaphyseal cupping Synophrys Poor speech Prominent supraorbital ridges Dry skin Thin vermilion border Hirsutism Downturned corners of mouth Primary adrenal insufficiency Short foot Hypopigmentation of the skin Nail dysplasia Low posterior hairline Increased body weight Macrotia Generalized hirsutism Ambiguous genitalia, male Hypointensity of cerebral white matter on MRI Femoral bowing Arachnodactyly Choanal atresia Joint contracture of the hand Horseshoe kidney Hemivertebrae Arnold-Chiari malformation Laryngomalacia Polycystic ovaries Radioulnar synostosis Clitoral hypertrophy Rocker bottom foot Multiple joint contractures Tarsal synostosis Conductive hearing impairment Carpal synostosis Abnormality of abdomen morphology Choanal stenosis Labial hypoplasia Cloverleaf skull Chordee Humeroradial synostosis Ulnar bowing Bronchomalacia Abnormalities of placenta or umbilical cord Vesicovaginal fistula Low maternal serum estriol Small for gestational age Proptosis Ventricular septal defect Atrophy of the spinal cord Posteriorly rotated ears Abnormality of the hair Bilateral talipes equinovarus Hydroureter Decreased fertility Male pseudohermaphroditism Maternal diabetes Cystic renal dysplasia Perineal hypospadias Prominent forehead Urogenital sinus anomaly Bilateral renal agenesis Bilateral renal hypoplasia Brachycephaly Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Unilateral renal hypoplasia Fetal pyelectasis Rectal fistula Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Microcephaly Flexion contracture Postnatal growth retardation Hernia Muscular hypotonia Depressed nasal tip Wide nasal bridge Microphthalmia Microtia Full cheeks Renal hypoplasia Cafe-au-lait spot Bone marrow hypocellularity Hypoplasia of the radius Absent thumb Esophageal atresia Chromosome breakage Rectovaginal fistula Limited elbow flexion/extension Abnormality of chromosome stability Forearm undergrowth Hypoplastic sacrum Short stature Pain Abdominal pain Cleft upper lip Hypotelorism Depressed nasal ridge Holoprosencephaly Diabetes insipidus High pitched voice Anemia Hypoplastic distal humeri Poor appetite Hypothalamic hamartoma Abnormality of cardiovascular system morphology Abnormal heart morphology Hip dislocation Postaxial hand polydactyly Renal dysplasia Occipital encephalocele Hamartoma Median cleft lip Microglossia Anterior hypopituitarism Glioma Long philtrum Rhizomelic arm shortening Severe short stature Short palm Hypoplasia of the maxilla Rhizomelia Disproportionate short-limb short stature Elbow dislocation Dislocated radial head Short humerus Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Hypopituitarism Panhypopituitarism Sensorineural hearing impairment Polymicrogyria Absence of pubertal development Abnormality of body height Increased female libido Generalized hypotonia Respiratory insufficiency Edema Hyporeflexia Agenesis of corpus callosum Polyhydramnios Coloboma Narrow chest Congenital diaphragmatic hernia Hypoplasia of the ovary Cerebellar vermis hypoplasia Hydrops fetalis Preaxial polydactyly Thoracic hypoplasia Molar tooth sign on MRI Anencephaly Upper limb undergrowth Thoracic dysplasia Retinal coloboma Aplastic clavicle Short upper lip Hearing impairment Non-obstructive azoospermia Female hypogonadism Adrenocorticotropic hormone deficiency Primary amenorrhea Microphallus Anterior pituitary hypoplasia Bilateral postaxial polydactyly Ectopic posterior pituitary Abnormality of the dentition Depressivity Osteoporosis Osteopenia Anxiety Delayed puberty Decreased testicular size Hypogonadotrophic hypogonadism Eunuchoid habitus Azoospermia Congenital sensorineural hearing impairment Impotence Hypoplasia of the uterus 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 Maternal virilization in pregnancy


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