Depressed nasal bridge, and Cerebral calcification

Diseases related with Depressed nasal bridge and Cerebral calcification

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


Top matches:

Medium match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Medium match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME


Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

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Other less relevant matches:

Medium match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Medium match CAREY-FINEMAN-ZITER SYNDROME


Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Medium match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Medium match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Medium match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Cerebral calcification

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short nose Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Proptosis Midface retrusion Abnormal facial shape Generalized hypotonia Scoliosis Malar flattening Long philtrum Hearing impairment Brachydactyly Muscular hypotonia Intellectual disability Cleft palate Anteverted nares Respiratory insufficiency Depressivity Full cheeks Flexion contracture Hypoplasia of dental enamel Arthrogryposis multiplex congenita Talipes equinovarus Macrocephaly Intrauterine growth retardation Dysphagia Microcephaly Low-set ears Respiratory distress Retrognathia Hydronephrosis Micromelia Short phalanx of finger Thoracic hypoplasia Seizures Short metacarpal Increased bone mineral density Obesity Brachycephaly Wide nasal bridge Downslanted palpebral fissures Nystagmus Osteoporosis Cataract Short neck Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Anxiety Growth delay Epicanthus Visual impairment Cryptorchidism Delayed eruption of teeth Strabismus Abnormality of the dentition Underdeveloped nasal alae Prominent forehead Mixed hearing impairment Ulnar deviation of the hand Calcification of falx cerebri Hyperextensible skin Depressed nasal ridge Hyperhidrosis Costal cartilage calcification Pierre-Robin sequence Narrow mouth Dyspnea Decreased fetal movement Progressive neurologic deterioration Apnea Recurrent otitis media Arthralgia Osteoarthritis Pulmonary hypoplasia Otitis media Low-set, posteriorly rotated ears Hypotrichosis Plagiocephaly Recurrent respiratory infections Pneumonia Respiratory failure Platyspondyly Pectus excavatum Ventriculomegaly Abnormality of the larynx Skeletal muscle atrophy Limb undergrowth Polyhydramnios Hypertension Pain Cognitive impairment Knee flexion contracture Frontal bossing Disproportionate short-limb short stature Short long bone Interphalangeal joint contracture of finger Round face Talipes Restrictive ventilatory defect Ulnar deviation of finger Pseudohypoparathyroidism Short 4th metacarpal Epiphyseal stippling Bowing of the long bones Spinal cord compression Ptosis Short metatarsal Short hallux Thyroid carcinoma Chronic obstructive pulmonary disease Hypoventilation Confusion Recurrent bronchitis Paresthesia Chronic sinusitis Peripheral pulmonary artery stenosis Premature fusion of phalangeal epiphyses Shortening of all distal phalanges of the fingers Hyporeflexia Calcification of the auricular cartilage Soft, doughy skin Tracheal atresia Pulmonary artery stenosis Calcification of cartilage Arterial calcification Cartilaginous ossification of larynx Hypogonadism Short nail Aplasia/Hypoplasia of the cerebellum Bilateral talipes equinovarus Hypothyroidism Irritability Cartilaginous ossification of nose Obstructive lung disease Abdominal aortic aneurysm Papillary thyroid carcinoma Pulmonary artery hypoplasia Short thumb Irregular vertebral endplates Flushing Pulmonic stenosis Respiratory tract infection Carcinoma Macrotia Alopecia Dilatation Intellectual disability, mild Ventricular septal defect Optic atrophy Pectoralis hypoplasia Muscle cramps Congenital facial diplegia Villous atrophy Impaired ocular abduction Aplasia of the pectoralis major muscle Hypertensive crisis Glandular hypospadias Aplasia/Hypoplasia of the tongue Nocturnal hypoventilation Laryngeal stenosis Hypoplasia of the musculature Infertility Short distal phalanx of finger Recurrent sinusitis Cutis laxa Glossoptosis Ankylosis Emphysema Aortic aneurysm Nasal speech Dermal atrophy Deep philtrum Growth abnormality Progressive hearing impairment Spontaneous abortion Wide nose Leukodystrophy Sinusitis Oculomotor nerve palsy Pulmonary arterial hypertension Sloping forehead Microglossia Facial diplegia Memory impairment Trismus Asthma Long face Osteoma cutis Chest pain Intracranial hemorrhage Petechiae Opisthotonus Abnormality of coagulation Multiple joint contractures Neonatal respiratory distress Akinesia Apathy Pleural effusion Congenital contracture Ectropion Poor suck Congenital ichthyosiform erythroderma Purpura Hydrops fetalis Thickened skin Abnormality of the face Open mouth Pancytopenia Cardiomegaly Oligohydramnios Premature birth Abnormal bleeding Hypokinesia Distal arthrogryposis Ascites Hepatic necrosis Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Myocardial necrosis Abnormality of the spinal cord Cardiorespiratory arrest Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Triangular face Metabolic acidosis Growth hormone deficiency Constrictive median neuropathy Short fifth metatarsal Short 3rd metacarpal Abdominal symptom Ectopic ossification Hypocalcemic tetany Myoclonic spasms Prolactin deficiency Hypocalcemic seizures Laryngeal dystonia Short 5th metacarpal Autoimmune antibody positivity Low urinary cyclic AMP response to PTH administration Elevated circulating parathyroid hormone level Calcinosis Hyperphosphatemia Oligomenorrhea Basal ganglia calcification Polyphagia Prolonged QT interval Conjunctivitis Hypocalcemia Hypergonadotropic hypogonadism Broad distal phalanx of the thumb Choroid plexus calcification Everted lower lip vermilion Elevated hepatic transaminase High, narrow palate Hepatic failure Ichthyosis Abnormality of eye movement Microtia Abnormality of the liver Abnormality of the pinna Developmental regression Camptodactyly Neonatal hypotonia Jaundice Relative macrocephaly Hepatosplenomegaly Hyperkeratosis Thrombocytopenia Splenomegaly Hypertonia Edema Hyperreflexia Hepatomegaly Anemia Spasticity Pituitary resistance to thyroid hormone Hypoplasia of the brainstem Large fontanelles Cranial nerve paralysis Sparse scalp hair Thickened calvaria Sparse eyebrow Ectopia lentis Sparse eyelashes Coxa valga Sparse and thin eyebrow Hypohidrosis Amblyopia Thick lower lip vermilion Vitreoretinopathy High myopia Esotropia Ectodermal dysplasia Bifid uvula Hypoplasia of the maxilla Retinal detachment Flat face Genu valgum Congenital cataract Aplasia cutis congenita Radial bowing Glaucoma Irregular proximal tibial epiphyses Severe short stature Abnormal heart morphology Abnormality of cardiovascular system morphology Kyphosis Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Macrodontia of permanent maxillary central incisor Hypoplasia of the zygomatic bone Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Sparse hair Myopia Skeletal dysplasia Long foot Short ribs Short palm Narrow chest Ectopic calcification Impulsivity Short foot Aggressive behavior Auditory hallucinations Xanthelasma Thoracolumbar scoliosis Elbow flexion contracture Fragile skin Narrow nasal bridge Prominent supraorbital ridges Pointed chin Hallucinations Tall stature Thin skin Overgrowth Thin upper lip vermilion Recurrent pneumonia Metatarsus adductus Sensorineural hearing impairment Broad metacarpals Progressive calcification of costochondral cartilage Triangular shaped distal phalanges of the hand Abnormal calcification of the carpal bones Tracheal calcification Small foramen magnum Posterior rib cupping C1-C2 subluxation Long fibula Atlantoaxial instability Broad phalanx Bowing of the legs Hip subluxation Anterior rib cupping Flared iliac wings Spondyloepimetaphyseal dysplasia Abnormality of the neck Bell-shaped thorax Syringomyelia Hypoplasia of the odontoid process Flared metaphysis Kyphoscoliosis Joint stiffness Severe muscular hypotonia Protruding tongue Mandibular aplasia Brachyturricephaly Long hallux Median cleft lip and palate Gingival fibromatosis Generalized osteosclerosis Choanal stenosis Osteopetrosis Obstructive sleep apnea Natal tooth Metaphyseal sclerosis Delayed cranial suture closure Hydroureter Hypophosphatemia Elevated alkaline phosphatase Abnormality of the genitourinary system Sleep apnea Narrow palate Wide anterior fontanel Gingival overgrowth Bilateral choanal atresia Alveolar ridge overgrowth Choanal atresia Gastroesophageal reflux Heterotopia Abnormal lung morphology Broad nasal tip Tapered finger Thin vermilion border Ophthalmoplegia Abnormal cardiac septum morphology Paralysis Facial palsy Elevated serum creatine phosphokinase Craniofacial disproportion Hypospadias Absent speech Myopathy Atrial septal defect Motor delay Feeding difficulties Muscle weakness Failure to thrive Hypoplastic nasal bridge Neoplasm Microdontia Camptodactyly of finger Abnormality of the outer ear Thoracic dysplasia Abnormality of the clavicle Overweight Hip contracture Short finger Proximal placement of thumb Overfolded helix Elbow dislocation Abnormality of the metacarpal bones Joint dislocation Symphalangism affecting the phalanges of the hand Hoarse voice Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Blue sclerae Abnormality of the ribs Hip dysplasia Joint hyperflexibility Abnormality of the foot Large earlobe Irregular epiphyses Macroglossia Cystic lesions of the pinnae Highly arched eyebrow Downturned corners of mouth Bulbous nose Wide mouth Protruding ear Mandibular prognathia Posteriorly rotated ears Hydrocephalus Hypertrophic auricular cartilage Laryngotracheal stenosis Lethal skeletal dysplasia Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Mild fetal ventriculomegaly



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