Depressed nasal bridge, and Craniosynostosis

Diseases related with Depressed nasal bridge and Craniosynostosis

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


Top matches:

Medium match PFEIFFER SYNDROME TYPE 1


Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

Medium 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

Medium match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Medium match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Medium match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Medium match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Medium match PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME


PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Medium match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Medium match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Craniosynostosis

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Prominent forehead Strabismus Frontal bossing Short nose Proptosis Epicanthus Abnormality of the skeletal system Midface retrusion Ptosis Brachycephaly Abnormal facial shape Malar flattening Macrocephaly Delayed speech and language development Telecanthus Cryptorchidism Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Wide nasal bridge Delayed skeletal maturation Generalized hypotonia Trigonocephaly Sparse eyelashes Cerebellar vermis hypoplasia Sparse hair Abnormality of the kidney Bilateral sensorineural hearing impairment Thin upper lip vermilion Hydrocephalus Sagittal craniosynostosis Cleft palate Glaucoma Preaxial foot polydactyly Anterior plagiocephaly Craniofacial dysostosis Muscular hypotonia Thoracolumbar scoliosis Microcephaly Hyperlordosis Osteopenia Scoliosis Growth delay Sensorineural hearing impairment Downslanted palpebral fissures Wide mouth Hallux varus Agenesis of corpus callosum Encephalocele Alopecia Upslanted palpebral fissure Broad hallux phalanx Hypogonadism Coronal craniosynostosis Calvarial skull defect Short palm Anteverted nares Broad philtrum Abnormality of the dentition Bifid nose Short stature Femoral bowing Short femoral neck Large sella turcica Delayed epiphyseal ossification Overlapping toe Beaking of vertebral bodies Rocker bottom foot Slender long bone Sparse and thin eyebrow Spondyloepimetaphyseal dysplasia Small epiphyses Narrow pelvis bone Parietal foramina Short fourth metatarsal Proximal femoral epiphysiolysis Anterior pituitary hypoplasia Skull asymmetry Thoracic platyspondyly Distal femoral bowing Tented upper lip vermilion Thick vermilion border Coxa vara Aplasia/Hypoplasia of the tibia Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Midline central nervous system lipomas Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Hypoplasia of the olfactory bulb Failure to thrive Motor delay Short neck Severe short stature Increased body weight Dermoid cyst Choroid plexus cyst Decreased lacrimation Autism Retrocerebellar cyst Skeletal dysplasia Median cleft palate Autistic behavior Microtia Platyspondyly Hepatomegaly Short metacarpal Hypertension Pneumonia Atrial septal defect Talipes equinovarus Buphthalmos Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Alopecia totalis Bifid nasal tip Splenic cyst Upper airway obstruction Seizures Myopia Ventriculomegaly Broad columella Hypoplasia of the corpus callosum Hyperhidrosis Hyperkeratosis Abnormal toenail morphology Broad nasal tip Short palpebral fissure Depressed nasal ridge Meningocele Median cleft lip Large fontanelles Hypohidrosis Esophageal varix Hiatus hernia Splenomegaly Renal cyst Long philtrum Recurrent infections Hernia Hypopituitarism Diabetes mellitus Thick nasal alae Respiratory failure Hypothyroidism Umbilical hernia Abnormality of the liver Cirrhosis Patellar hypoplasia Epiphyseal dysplasia Sepsis Hepatitis Choanal atresia Cholestasis Hepatic fibrosis Wide anterior fontanel Polycystic kidney dysplasia Portal hypertension Congenital glaucoma Congenital hypothyroidism Enlarged kidney Bilateral cryptorchidism External ear malformation Hypercalcemia Coarse facial features Nephritis Hypoplastic toenails Scaphocephaly Tubulointerstitial nephritis Posterior fossa cyst Feeding difficulties Brachydactyly Clinodactyly Abnormal heart morphology Constipation Posteriorly rotated ears Feeding difficulties in infancy Dandy-Walker malformation Abnormal cardiac septum morphology Neurological speech impairment Hypermetropia Thick eyebrow Wide nose Otitis media Microdontia Sparse scalp hair Recurrent otitis media Arnold-Chiari malformation Small pituitary gland Sparse eyebrow Ectodermal dysplasia Headache Intellectual disability, mild High palate High forehead Finger syndactyly Toe syndactyly Short foot Broad thumb Aplasia/Hypoplasia of the thumb Short hallux Aqueductal stenosis Bicoronal synostosis Nystagmus Microphthalmia Hematuria Intellectual disability, moderate Underdeveloped nasal alae Oligohydramnios Fine hair Scrotal hypoplasia Conical tooth Agenesis of cerebellar vermis Micrognathia Cognitive impairment Ventricular septal defect Proteinuria Syndactyly Mandibular prognathia Hypercalciuria Posterior plagiocephaly Optic nerve hypoplasia Flat occiput Arnold-Chiari type I malformation Stomatocytosis Dimple chin Lambdoidal craniosynostosis Ectopic posterior pituitary Prominent scalp veins Round ear Diminished ability to concentrate Pansynostosis Hypospadias Plagiocephaly Micropenis Hydronephrosis Postnatal growth retardation Respiratory tract infection Muscular dystrophy Micromelia Growth hormone deficiency Abnormality of the genital system Hypocalcemia Nephrocalcinosis Short long bone Increased intracranial pressure Microretrognathia Abnormality of the pinna Split foot Genu valgum Hypoplasia of the maxilla Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Abnormal palate morphology Short metatarsal 2-3 toe syndactyly Broad hallux Underdeveloped supraorbital ridges Shallow orbits Turricephaly Small hand Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Broad metatarsal Calcaneonavicular fusion Spasticity Hypertonia Retrognathia Protruding ear Blepharophimosis Facial asymmetry Downturned corners of mouth Abnormality of the glabella



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