Depressed nasal bridge, and Intellectual disability, moderate
Diseases related with Depressed nasal bridge and Intellectual disability, moderate
In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Intellectual disability, moderate that can help you solving undiagnosed cases.
Top matches:
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)
Related symptoms:
- Seizures
- Global developmental delay
- Growth delay
- Failure to thrive
- Muscular hypotonia
SOURCES:
ORPHANET
MENDELIAN
More info about 2P21 MICRODELETION SYNDROME
Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
SOURCES:
OMIM
MENDELIAN
More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism
Related symptoms:
- Hypertelorism
- Nystagmus
- Strabismus
- Cryptorchidism
- Low-set ears
SOURCES:
ORPHANET
MENDELIAN
More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME
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Other less relevant matches:
Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about HYPOTONIA-CYSTINURIA SYNDROME
The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.
CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
SOURCES:
OMIM
MENDELIAN
More info about CLEIDOCRANIAL DYSPLASIA; CCD
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome
Related symptoms:
- Short stature
- Hearing impairment
- Failure to thrive
- Micrognathia
- Sensorineural hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about MICROPHTHALMIA WITH LIMB ANOMALIES
MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.
MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Growth delay
- Hypertelorism
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about MULIBREY NANISM
Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Intellectual disability, moderate
Symptoms // Phenotype |
% cases |
Frontal bossing |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Hypertelorism |
Common - Between 50% and 80% cases
|
Growth delay |
Uncommon - Between 30% and 50% cases
|
Failure to thrive |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Depressed nasal bridge and Intellectual disability, moderate. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hypogonadism
Short stature
Seizures
Muscular hypotonia
Global developmental delay
Abnormal facial shape
High palate
Talipes equinovarus
Generalized hypotonia
Cryptorchidism
Motor delay
Anteverted nares
Low-set, posteriorly rotated ears
Micrognathia
Increased body weight
Rare Symptoms - Less than 30% cases
Macrocephaly
Anemia
Delayed eruption of teeth
Cardiomyopathy
Skeletal dysplasia
Hip dislocation
Epicanthus
Macroglossia
Wormian bones
Coxa vara
Broad forehead
Ptosis
Hypoplastic frontal sinuses
Fatigue
Intellectual disability, severe
Retrognathia
Malar flattening
Respiratory distress
Dolichocephaly
Growth hormone deficiency
Cleft palate
Absent frontal sinuses
Hearing impairment
Microphthalmia
Hypocalcemia
Dental crowding
Long philtrum
Triangular face
Wide nasal bridge
Downslanted palpebral fissures
Neoplasm
Thin vermilion border
Strabismus
Nasal speech
Cystinuria
Nephrolithiasis
Abnormality of the dentition
Lactic acidosis
Long eyelashes
Decreased fetal movement
Intrauterine growth retardation
Tibial bowing
Horseshoe kidney
Synostosis of carpal bones
Abnormality of the genital system
Congenital cataract
Bowing of the long bones
Aganglionic megacolon
Broad thumb
Bilateral single transverse palmar creases
Fibular hypoplasia
Hypopigmented skin patches
Webbed neck
Sandal gap
Abnormality of the metacarpal bones
Bruising susceptibility
Tarsal synostosis
Talipes
Anosmia
Short long bone
Elbow dislocation
Premature graying of hair
Abnormal form of the vertebral bodies
Joint hyperflexibility
Postaxial hand polydactyly
Neurocytoma
Protruding tongue
Myelomeningocele
Osteosarcoma
Brain neoplasm
Aplasia/Hypoplasia of the earlobes
Hypochromic microcytic anemia
Microcytic anemia
Asymmetry of the thorax
Hypochromic anemia
Flat forehead
Reduced alpha/beta synthesis ratio
Postaxial foot polydactyly
Triangular nasal tip
Aplasia/Hypoplasia of the eyebrow
Supernumerary nipple
Hypoplasia of the maxilla
Blepharophimosis
Hypopigmentation of the skin
Cleft upper lip
Underdeveloped supraorbital ridges
Toe syndactyly
Finger syndactyly
Short toe
Prominent forehead
Radial deviation of finger
Clinodactyly of the 5th finger
Hydrocephalus
Optic atrophy
Sensorineural hearing impairment
Spina bifida
Polycystic kidney dysplasia
Hemoglobin H
Synostosis of joints
Abnormal eyebrow morphology
Overgrowth
Acanthosis nigricans
Pointed chin
Insulin resistance
Epidermal acanthosis
Type II diabetes mellitus
Pigmentary retinopathy
Cyanosis
Cachexia
Decreased antibody level in blood
Nevus
Abdominal distention
Ascites
Hypodontia
Cirrhosis
Reduced tendon reflexes
Premature ovarian insufficiency
Infertility
Myocardial fibrosis
Constrictive pericarditis
J-shaped sella turcica
Peripheral edema
Fibroma
Weak voice
Prominent superficial veins
Microglossia
Nephroblastoma
Scaphocephaly
Insulin-resistant diabetes mellitus
Pericarditis
Slender long bone
Pulmonary fibrosis
High pitched voice
Astigmatism
Delayed puberty
Short tibia
White forelock
White eyelashes
Macrodontia
Arrhinencephaly
Hand oligodactyly
Intestinal pseudo-obstruction
Venous insufficiency
Abnormality of the thumb
White eyebrow
Abnormality of the upper limb
White hair
Abnormality of the lower limb
Large earlobe
Heterochromia iridis
Blue irides
Foot oligodactyly
Hypoplasia of the premaxilla
Small for gestational age
Congestive heart failure
Retinopathy
Abnormality of the nervous system
Hepatosplenomegaly
Diabetes mellitus
Severe short stature
Depressivity
Edema
Lacrimal gland hypoplasia
Hypoplasia of the corpus callosum
Ventriculomegaly
Dysarthria
Hepatomegaly
Feeding difficulties
True anophthalmia
Camptodactyly of 2nd-5th fingers
Neurological speech impairment
Delayed eruption of primary teeth
Microtia
Congenital hip dislocation
Dilatation
Delayed skeletal maturation
Elevated serum creatine phosphokinase
Constipation
Hypothyroidism
Joint laxity
Dry skin
Flat face
Limb undergrowth
Broad-based gait
Omphalocele
Clumsiness
Hoarse voice
Hypercholesterolemia
Bifid nose
Relative macrocephaly
Congenital hypothyroidism
Drowsiness
Long thorax
Thyroid hormone receptor defect
No permanent dentition
Increased T3/T4 ratio
Muscle weakness
Areflexia
Posteriorly rotated ears
Acidosis
Macrotia
Neonatal hypotonia
Facial palsy
Cognitive impairment
Agenesis of cerebellar vermis
Arthrogryposis multiplex congenita
Nystagmus
Hypoglycemia
Mitochondrial respiratory chain defects
Absent speech
Thin upper lip vermilion
Anxiety
Smooth philtrum
Highly arched eyebrow
Focal-onset seizure
Generalized-onset seizure
Nephrocalcinosis
Obsessive-compulsive behavior
Unilateral renal agenesis
Hyperparathyroidism
Obsessive-compulsive trait
Low-set ears
Broad philtrum
Intellectual disability, mild
Alopecia
Agenesis of corpus callosum
Upslanted palpebral fissure
Brachycephaly
Telecanthus
Underdeveloped nasal alae
Oligohydramnios
Fine hair
Encephalocele
Scrotal hypoplasia
Coronal craniosynostosis
Calvarial skull defect
Conical tooth
Feeding difficulties in infancy
Hypergonadotropic hypogonadism
Pectus carinatum
Delayed pubic bone ossification
Hypoplastic iliac wing
Osteolytic defects of the phalanges of the hand
Spondylolisthesis
Short middle phalanx of the 5th finger
Aplastic clavicle
Cervical ribs
Delayed eruption of permanent teeth
Parietal foramina
Parietal bossing
Moderately short stature
Spondylolysis
Large foramen magnum
Short middle phalanx of the 2nd finger
Absent paranasal sinuses
Wide pubic symphysis
Abnormality of the clavicle
Persistent open anterior fontanelle
Long second metacarpal
Abnormal facility in opposing the shoulders
Microcephaly
Cataract
Flexion contracture
Short neck
Hernia
Obesity
Hypospadias
Patent ductus arteriosus
Micropenis
High forehead
Abnormality of the kidney
Hypoplastic scapulae
Cone-shaped epiphyses of the phalanges of the hand
Severe muscular hypotonia
Genu valgum
Tented upper lip vermilion
Abnormality of mitochondrial metabolism
Polyphagia
Central hypotonia
Neonatal hypoglycemia
Severe failure to thrive
Scoliosis
Brachydactyly
Abnormality of the skeletal system
Kyphosis
Midface retrusion
Mandibular prognathia
Pes planus
Narrow chest
High, narrow palate
Syringomyelia
Dental malocclusion
Otitis media
Recurrent otitis media
Hypoplasia of dental enamel
Large fontanelles
Increased bone mineral density
Short ribs
Increased susceptibility to fractures
Cone-shaped epiphysis
Neonatal respiratory distress
Short femoral neck
Thickened calvaria
Increased number of teeth
Short clavicles
Pericardial constriction
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