Depressed nasal bridge, and Low posterior hairline

Diseases related with Depressed nasal bridge and Low posterior hairline

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


Top matches:

High match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

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 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

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Other less relevant matches:

High match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

High match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

High match CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

High match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

High match BRANCHIO-OCULO-FACIAL SYNDROME


Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

High match 3C SYNDROME


Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Low posterior hairline

Symptoms // Phenotype % cases
Short neck Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Prominent forehead Microcephaly Growth delay Generalized hypotonia Macrocephaly Delayed speech and language development Ptosis Cryptorchidism High palate Brachycephaly Seizures Midface retrusion Flexion contracture Atrial septal defect Feeding difficulties in infancy Abnormal facial shape Generalized hirsutism Lymphedema Scoliosis Long philtrum Anteverted nares Wide nasal bridge Strabismus Low-set, posteriorly rotated ears Postnatal growth retardation Cleft palate Wide intermamillary distance Pulmonic stenosis Gastroesophageal reflux Epicanthus Posteriorly rotated ears Muscular hypotonia Cardiomyopathy Intellectual disability, mild Proximal placement of thumb Frontal bossing Delayed skeletal maturation Abnormality of the skeletal system Thick eyebrow Neurological speech impairment Low anterior hairline Bicuspid aortic valve Pyloric stenosis Hearing impairment Inguinal hernia Intellectual disability, severe Glaucoma Motor delay Talipes Joint laxity Cerebral cortical atrophy Microcornea Pectus excavatum Ventriculomegaly Ventricular septal defect Pectus carinatum Cataract Abnormality of cardiovascular system morphology Hypospadias Bilateral single transverse palmar creases High forehead Recurrent respiratory infections Short nose Optic atrophy Intrauterine growth retardation Leukemia Webbed neck Pes planus Macrotia

Rare Symptoms - Less than 30% cases


Hypertension Failure to thrive Sensorineural hearing impairment Myopia Hypoplastic fingernail Abnormal lung morphology Cubitus valgus Clinodactyly of the 5th finger Cafe-au-lait spot Conductive hearing impairment Arachnodactyly Genu valgum Toe syndactyly Hip dislocation Abnormality of the hip bone Broad forehead Hepatosplenomegaly Synophrys Proptosis Highly arched eyebrow Thrombocytopenia Dry skin Splenomegaly Feeding difficulties Intestinal malrotation Thin vermilion border Hip dysplasia Hypoplasia of penis Nystagmus Aortic valve stenosis Prominent antitragus Iris coloboma Short metacarpal Broad nasal tip Broad neck Everted lower lip vermilion Kyphosis Hydronephrosis Cleft lip Hyperlordosis Abnormality of the kidney Coloboma Abnormality of the hand Oral cleft Metatarsus adductus Elbow flexion contracture Congenital diaphragmatic hernia Renal agenesis Microphthalmia Congestive heart failure Upslanted palpebral fissure Talipes equinovarus Micropenis Peripheral neuropathy Tetralogy of Fallot Overfolded helix Wide mouth Deep philtrum White forelock Unilateral renal agenesis Hirsutism Sparse hair Downturned corners of mouth Microtia Hydrocephalus Accelerated skeletal maturation Prominent supraorbital ridges Short foot Broad hallux Abnormal heart morphology Long eyelashes Narrow nasal bridge Congenital glaucoma Abnormal cardiac septum morphology Cardiomegaly Thick vermilion border Hypermetropia Telecanthus Narrow chest Abnormality of the foot Finger syndactyly Anxiety Esotropia Skeletal dysplasia Osteopenia Osteoporosis Microdontia Patent ductus arteriosus Recurrent infections Mitral regurgitation Respiratory distress Growth hormone deficiency Multicystic kidney dysplasia Curly eyelashes Radioulnar synostosis Aplasia/Hypoplasia of the cerebellum Enlarged metaphyses Broad distal phalanges of all fingers Facial hypotonia Abnormal eyebrow morphology Spatulate thumbs Bruising susceptibility Bilateral talipes equinovarus Hydrocele testis Neurodevelopmental delay Decreased muscle mass Thoracic hypoplasia Edema Myopathy Gait disturbance Spondyloepiphyseal dysplasia Metacarpophalangeal joint hyperextensibility Broad toe Sandal gap Cutis laxa Pulmonary lymphangiectasia Hyperextensible skin Monocytosis Cognitive impairment Prominent fingertip pads Hypertropia Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Patent foramen ovale Short attention span Bilateral elbow dislocations Accessory carpal bones Shoulder dislocation Small face Cyanosis Joint hypermobility Deep palmar crease Falls Fine hair Epistaxis Upper limb undergrowth Abnormally large globe Astigmatism Lymphoma Abnormal bleeding Triangular face Overlapping fingers 11 pairs of ribs Ascites Generalized osteoporosis Hyperpigmentation of the skin Hydrops fetalis Polyhydramnios Failure to thrive in infancy Arteritis Restrictive ventilatory defect Abnormality of the thorax Multiple joint dislocation Pleural effusion Bilateral ptosis Cholelithiasis Aortic root aneurysm Poor suck Talipes equinovalgus Knee dislocation Torticollis Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Vasculitis Single transverse palmar crease Abnormality of the mediastinum High, narrow palate Wormian bones Hemivertebrae Horseshoe kidney Preauricular skin tag Large fontanelles Cerebellar vermis hypoplasia Limb undergrowth Dandy-Walker malformation Decreased antibody level in blood Bifid uvula Postural instability Anal atresia Hand polydactyly Prominent nasal bridge Camptodactyly Cerebellar hypoplasia Alopecia Dilatation Immunodeficiency Syndactyly Brachydactyly Fusion of middle ear ossicles Ectopic thymus tissue Supraauricular pit Narrow palate Chorioretinal coloboma Duplication of internal organs Mitral stenosis Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Communicating hydrocephalus Abnormality of neuronal migration Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pierre-Robin sequence Double outlet right ventricle Adrenal hypoplasia Posterior embryotoxon Atrioventricular canal defect Mesomelia Prominent occiput Hypoplastic left heart Upper lip pit Malrotation of colon Reduced factor IX activity Renal cyst Preaxial hand polydactyly Anophthalmia Preaxial polydactyly Nasal speech Dermal atrophy Reduced number of teeth Hemangioma Abnormality of the outer ear Joint contracture of the hand Short thumb Hypodontia Pulmonary hypoplasia Supernumerary nipple Cleft upper lip Dolichocephaly Small for gestational age Abnormality of the pinna Polydactyly Abnormality of the dentition Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Preauricular pit Premature graying of hair Postauricular pit Everted upper lip vermilion Enlarged vestibular aqueduct Short nasal septum Auricular pit Lower lip pit Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Branchial fistula Lacrimal duct atresia Polycoria Abnormality of the philtrum Non-midline cleft lip Lacrimal duct stenosis Fingernail dysplasia Nasolacrimal duct obstruction Agenesis of cerebellar vermis Bifid nasal tip Retinal coloboma Premature skin wrinkling Atypical scarring of skin Bilateral cleft lip Median cleft lip Aplasia cutis congenita Hamartoma Microretrognathia Cutis marmorata Joint dislocation Palmoplantar keratoderma Skin ulcer Abnormality of retinal pigmentation Thin skin Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Hepatitis Dehydration Convex nasal ridge Asthma Carious teeth Recurrent pneumonia Pruritus Papule Skin rash Erythema Elevated hepatic transaminase Hyperkeratosis Poor speech Obesity Abnormality of metabolism/homeostasis Diarrhea Nail dystrophy Abnormality of the fingernails Hepatomegaly Concave nasal ridge Cerebral atrophy Spasticity Deeply set eye Aggressive behavior Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear Chronic lung disease Reduced bone mineral density Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Vomiting Visual impairment Encephalopathy Myeloid leukemia Elevated alkaline phosphatase Nail dysplasia Increased body weight Coxa valga Gingival overgrowth Abnormality of the metaphysis Hypertrichosis Thick lower lip vermilion Ventricular hypertrophy Short distal phalanx of finger Platyspondyly Large for gestational age Hypertrophic cardiomyopathy Umbilical hernia Coarse facial features Acute myeloid leukemia Echolalia Broad face Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Regional abnormality of skin Metaphyseal widening Flared metaphysis Anemia Large sella turcica Hypopigmentation of the skin Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Cuboid-shaped vertebral bodies Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Concentric hypertrophic cardiomyopathy Deep plantar creases Pericardial effusion Generalized hypertrichosis Esodeviation Broad hallux phalanx Broad ribs Thick upper lip vermilion Ovoid vertebral bodies Short hallux Thickened calvaria Thin ribs Abnormal heart valve morphology Absent speech Hyporeflexia Meningitis Sleep disturbance Hypointensity of cerebral white matter on MRI Obsessive-compulsive behavior Elbow dislocation Atresia of the external auditory canal Widely spaced teeth Choanal atresia Primary amenorrhea Premature birth Vesicoureteral reflux Delayed eruption of teeth Small hand Hypoplastic nipples Micromelia Delayed puberty Attention deficit hyperactivity disorder Joint stiffness Specific learning disability Autism Relative macrocephaly Renal insufficiency Hypertonia Neurofibromas Truncal obesity Oligodactyly Multiple cafe-au-lait spots Hernia Rhizomelia Amblyopia Left ventricular hypertrophy Blue sclerae Mitral valve prolapse Recurrent fractures Flat face Kyphoscoliosis Narrow mouth Muscle weakness Fever Blepharitis Abnormally low-pitched voice Prenatal movement abnormality Phthisis bulbi Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Severe postnatal growth retardation Freckling Acute lymphoblastic leukemia Severe short stature Lisch nodules Lumbar hyperlordosis Hypotelorism Hypoplasia of the maxilla Polyneuropathy Short palm Polymicrogyria Peripheral axonal neuropathy Secundum atrial septal defect Congenital cataract Severe global developmental delay Short philtrum Short phalanx of finger Abnormal pyramidal sign Axillary freckling Superior pectus carinatum Prominent nasolabial fold Intellectual disability, moderate Muscular hypotonia of the trunk Optic nerve glioma Pectus excavatum of inferior sternum Inguinal freckling Hypogonadism Postnatal microcephaly Short toe Slender ulna Thoracic scoliosis Prominent nipples Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Ulnar deviation of finger Clonus Prematurely aged appearance Spastic diplegia Bilateral cryptorchidism Epiphyseal dysplasia Abnormal dermatoglyphics Intellectual disability, progressive Knee flexion contracture Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cardiac arrest Primum atrial septal defect



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