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:

High match 2P21 MICRODELETION SYNDROME


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

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


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

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


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:

High match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

High match HYPOTONIA-CYSTINURIA SYNDROME


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

High match CLEIDOCRANIAL DYSPLASIA; CCD


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

High match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


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

High match MICROPHTHALMIA WITH LIMB ANOMALIES


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

High match MULIBREY NANISM


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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