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.
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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
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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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
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
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
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
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
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
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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