Wide nasal bridge, and Gynecomastia

Diseases related with Wide nasal bridge and Gynecomastia

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


Top matches:

High match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

High match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

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Other less relevant matches:

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H 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

High match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

High match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

High match CORNELIA DE LANGE SYNDROME 5; CDLS5


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

High match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Gynecomastia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Gynecomastia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Micropenis Abnormal facial shape Generalized hypotonia Hearing impairment Microcephaly Hypogonadism Micrognathia Ventricular septal defect Inguinal hernia Delayed puberty Camptodactyly Wide mouth Decreased testicular size Seizures Hirsutism Delayed skeletal maturation Ventriculomegaly Cleft palate Cognitive impairment Brachydactyly Scoliosis Global developmental delay Thin vermilion border Short neck Failure to thrive Epicanthus Flexion contracture High palate Motor delay Synophrys Downslanted palpebral fissures Anteverted nares Thick lower lip vermilion Hernia Abnormal heart morphology Hypospadias Gingival overgrowth Hyperactivity Proptosis Umbilical hernia Posteriorly rotated ears Clinodactyly of the 5th finger Primary amenorrhea Long philtrum Abnormality of the skeletal system Deeply set eye Abnormality of the dentition Joint laxity Low-set, posteriorly rotated ears Macrotia Bulbous nose Abnormality of cardiovascular system morphology Nevus

Rare Symptoms - Less than 30% cases


Epidermal acanthosis Interphalangeal joint contracture of finger Wide anterior fontanel Toe syndactyly Small hand Anxiety Osteolysis Short foot Amenorrhea Aggressive behavior Mitral valve prolapse Feeding difficulties in infancy Full cheeks Broad nasal tip Telecanthus Single transverse palmar crease Thick vermilion border Short palm Protruding ear Hypertrichosis Cleft lip Broad forehead Short philtrum Postnatal growth retardation Conductive hearing impairment Gastroesophageal reflux Pes planus Intrauterine growth retardation Feeding difficulties Macrocephaly Severe short stature Sensorineural hearing impairment Skeletal muscle atrophy Gait disturbance Hyperkeratosis Myelofibrosis Hypothyroidism Frontal bossing Hyperplasia of the maxilla Acne Hydrocephalus Behavioral abnormality Absent speech Concave nasal ridge Clinodactyly Patent ductus arteriosus Atrial septal defect Talipes equinovarus Delayed cranial suture closure Wide intermamillary distance Myopia Obesity Camptodactyly of finger Joint stiffness Abnormality of the pinna Hyperglycemia Hip dysplasia Low-set ears Downturned corners of mouth Sparse hair Aspiration Prominent nose Azoospermia Muscular hypotonia Hypoplasia of penis Acanthosis nigricans Abnormality of the voice Thick nasal alae Cachexia Precocious puberty Lipoatrophy Large hands Plagiocephaly Relative macrocephaly Ovarian cyst Decreased serum testosterone level Growth hormone deficiency Delayed speech and language development Cleft upper lip Genu valgum Intellectual disability, moderate Coarse facial features Ptosis Osteopenia High forehead Mandibular prognathia Respiratory failure Abdominal distention Brachycephaly Osteoporosis Prominent forehead Syndactyly Intellectual disability, severe Congestive heart failure Kyphosis Joint hyperflexibility Anal atresia Truncal obesity Joint hypermobility Recurrent infections Small for gestational age Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Hypermelanotic macule Decreased muscle mass Glucose intolerance Type II diabetes mellitus Clitoral hypertrophy Hypoglycemia Hepatic fibrosis Hyperinsulinemia High, narrow palate Cutis laxa Nail dysplasia Generalized hirsutism Cholestasis Recurrent respiratory infections Insulin resistance Dysphagia Sparse body hair Urethral fistula Abnormality of metabolism/homeostasis Hypogonadotrophic hypogonadism Congenital sensorineural hearing impairment Impotence Hypoplasia of the uterus Bifid scrotum Scrotal hypoplasia Abnormality of the hair Oligohydramnios Ambiguous genitalia Pulmonary hypoplasia Hydronephrosis Short nose Seborrheic keratosis Increased female libido Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Hypoplasia of the ovary Female hypogonadism Eunuchoid habitus Decreased testosterone in males Breast hypoplasia Absence of secondary sex characteristics Male hypogonadism Generalized joint laxity Depressivity Tracheoesophageal fistula Bilateral camptodactyly Bilateral renal agenesis Urethral atresia, male Absent penis Cloacal abnormality Incomplete male pseudohermaphroditism Rectal fistula Fetal pyelectasis Unilateral renal hypoplasia Bilateral lung agenesis Abnormality of the bladder Anorectal anomaly Bilateral renal hypoplasia Atrophy of the spinal cord Urogenital sinus anomaly Retroperitoneal fibrosis Ambiguous genitalia, male Secondary amenorrhea Perineal hypospadias Cystic renal dysplasia Abnormality of the endocrine system Maternal diabetes Male pseudohermaphroditism Decreased fertility Thickened nuchal skin fold Upper eyelid edema Hydroureter Bilateral talipes equinovarus Hearing abnormality Hypophosphatemia Severe failure to thrive Nevus flammeus Neurological speech impairment Blepharophimosis EEG abnormality Gait ataxia Hyperhidrosis Pes cavus Immunodeficiency Hypertonia Hypoplasia of the corpus callosum Tremor Happy demeanor Limited elbow extension Macroglossia Cutis marmorata Proximal placement of thumb Prominent supraorbital ridges Widely spaced teeth Low anterior hairline Long eyelashes Highly arched eyebrow Wide nose Prominent nasal bridge Microtia Retrognathia Polymicrogyria Memory impairment Large cafe-au-lait macules with irregular margins Restlessness Moderately short stature Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Abnormal hair pattern Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Striae distensae Intention tremor Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Cortical gyral simplification Cortical dysplasia Open bite Cubitus valgus Sandal gap Narrow palpebral fissure Short thumb Broad-based gait Monostotic fibrous dysplasia Precocious puberty in females Long foot Neoplasm Neoplasm of the skin Nephrocalcinosis Decreased liver function Cafe-au-lait spot Tall stature Nephrolithiasis Infertility Facial asymmetry Autoimmunity Vomiting Blindness Asymmetry of the breasts Hypercalciuria Prominent nipples Adipose tissue loss Elfin facies Postprandial hyperglycemia Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Long penis Fasting hypoglycemia Small face Goiter Elevated alkaline phosphatase Polyostotic fibrous dysplasia Increased circulating cortisol level Thyroid nodule Axillary freckling Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Craniofacial hyperostosis Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Pituitary adenoma Prolactin excess Syringomyelia Hypercalcemia Growth hormone excess Osteomalacia Hyperthyroidism Hyperparathyroidism Freckling Abnormality of the thyroid gland Pathologic fracture Neurofibromas Stiff skin Adrenal insufficiency Hyperostosis Rickets Cervical lymphadenopathy Hepatosplenomegaly Snoring Double outlet right ventricle Broad clavicles Multiple skeletal anomalies Broad alveolar ridges Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Beaking of vertebral bodies Abnormally large globe Genu recurvatum Premature loss of teeth Serpentine fibula Megalocornea Aseptic necrosis Congenital glaucoma Flared metaphysis Metatarsus adductus Tricuspid regurgitation Flat occiput Cholelithiasis Short long bone Abnormality of the metacarpal bones Prominent coccyx Cortical irregularity Wormian bones Neonatal hypotonia Fine hair Lumbar hyperlordosis Webbed neck Intestinal malrotation Triangular face Unsteady gait Dolichocephaly Severe global developmental delay Attention deficit hyperactivity disorder Craniosynostosis Rigidity Anterior concavity of thoracic vertebrae Cerebral cortical atrophy Agenesis of corpus callosum Cerebellar hypoplasia Constipation Dilatation Optic atrophy Visual impairment Spasticity Cataract Strabismus Nystagmus Short chin Short phalanx of finger Choanal atresia Bone pain Increased number of teeth Cone-shaped epiphysis Preaxial polydactyly Redundant skin Deep philtrum Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Joint dislocation Bilateral single transverse palmar creases Exotropia Cone-shaped epiphyses of the phalanges of the hand Recurrent urinary tract infections Sparse scalp hair Ectodermal dysplasia Vesicoureteral reflux Thick eyebrow Talipes Finger syndactyly Stroke Thin upper lip vermilion Polydactyly Exostoses Spinal cord compression Thickened skin Multiple long-bone exostoses Bowing of the long bones Dental malocclusion Delayed eruption of teeth Smooth philtrum Corneal opacity Skeletal dysplasia Kyphoscoliosis Glaucoma Pectus excavatum Redundant skin in infancy Scapular exostoses Fragile nails Rib exostoses Persistent cloaca Mild postnatal growth retardation Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Prune belly Multiple exostoses Vaginal atresia Avascular necrosis of the capital femoral epiphysis Oligospermia Split hand Open mouth Episcleritis Bronchiectasis Leukocytosis Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Hyperpigmentation of the skin Telangiectasia Hypertriglyceridemia Increased antibody level in blood Blue sclerae Epistaxis Cardiomegaly Bilateral sensorineural hearing impairment Overgrowth Recurrent fractures Polyneuropathy Flat face Ichthyosis Lymphadenopathy Hallux valgus Elevated erythrocyte sedimentation rate Malabsorption Skin nodule Panniculitis Facial telangiectasia Generalized lymphadenopathy Corneal arcus Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Nasal obstruction Microcytic anemia Recurrent pharyngitis Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Abnormality of the foot Hypotrichosis Heterotopia Radial deviation of finger Skin tags Thoracic scoliosis Anal stenosis Anteriorly placed anus Partial agenesis of the corpus callosum Abnormality of the sternum Broad hallux High pitched voice Multiple joint contractures Bowing of the legs Impulsivity Facial hypotonia Chorioretinal coloboma Congenital contracture Pyloric stenosis Optic nerve hypoplasia Sacral dimple Narrow palate Joint contracture of the hand Dental crowding Aganglionic megacolon Broad thumb Pachygyria Megalencephaly Delayed closure of the anterior fontanelle Pectus carinatum Edema Retinopathy Abnormal cardiac septum morphology Apnea Abnormality of the kidney Dyspnea Diabetes mellitus Pneumonia Alopecia Splenomegaly Intellectual disability, mild Fever Gastrointestinal dysmotility Hepatomegaly Hyperreflexia Anemia Facial wrinkling Auricular pit Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Abnormality of toe



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Kyphosis, related diseases and genetic alterations Ventricular septal defect and Generalized tonic-clonic seizures, related diseases and genetic alterations

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