Depressed nasal bridge, and Dolichocephaly

Diseases related with Depressed nasal bridge and Dolichocephaly

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

Top matches:

Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Other less relevant matches:

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Low-set ears
  • Motor delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16

High match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

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

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Abnormality of the skeletal system Microcephaly Anteverted nares Trigonocephaly Short neck Downslanted palpebral fissures Dysphagia Prominent forehead Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Sparse eyebrow Macrotia Narrow forehead Seizures Hearing impairment Failure to thrive Ptosis Optic atrophy Intellectual disability, severe Midface retrusion Hypermetropia Broad forehead Proteinuria Synophrys Oral cleft Wide nasal bridge Motor delay Scaphocephaly Short thorax Short ribs Hip dislocation Abnormality of the dentition Scoliosis Deep philtrum Cognitive impairment Epicanthus Mandibular prognathia Hyperlordosis Brachydactyly Frontal bossing Joint stiffness Generalized hypotonia Webbed neck Weak cry Depressed nasal ridge Joint laxity Nephrotic syndrome Palmoplantar keratoderma Polyneuropathy Hip contracture Pachygyria Intellectual disability, progressive Progressive microcephaly Short chin Long face Poor head control Abnormality of vision Palmoplantar hyperkeratosis Cortical dysplasia Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Polymicrogyria Severe global developmental delay Ichthyosis Areflexia Flat acetabular roof Thoracic dysplasia Bilateral postaxial polydactyly Ataxia Fetal distress Sensorineural hearing impairment Muscular hypotonia Peripheral neuropathy Congestive heart failure Agenesis of corpus callosum Abnormality of eye movement Hypogonadism Abnormality of the eye Hyperglycinemia Exaggerated startle response Stroke Hand clenching Prominent nasal bridge Hepatomegaly Genu recurvatum Optic disc hypoplasia Splenomegaly Myopathic facies Cellular metachromasia Clonus Long eyelashes Heparan sulfate excretion in urine Hip dysplasia Thickened ribs Esotropia Ovoid thoracolumbar vertebrae Dense calvaria Abnormality of the foot Arthrogryposis multiplex congenita Elbow flexion contracture Flexion contracture Hypertension Apnea Hyperreflexia Talipes equinovarus Ventriculomegaly Hypertonia Encephalopathy Muscular hypotonia of the trunk Respiratory failure Asymmetric septal hypertrophy Motor deterioration Diarrhea Hepatosplenomegaly Behavioral abnormality Retrognathia Hernia Rod-cone dystrophy Hyperactivity Kyphoscoliosis Coarse facial features Overlapping toe Oral-pharyngeal dysphagia Umbilical hernia Respiratory tract infection Dysostosis multiplex Hirsutism Everted lower lip vermilion Sleep disturbance Hypertrichosis Growth abnormality Coarse hair Recurrent upper respiratory tract infections Protuberant abdomen Restlessness Loss of speech Cone-shaped epiphyses of the phalanges of the hand Hypoplastic pelvis Cone-shaped epiphysis Microcornea Cleft palate High palate Macrocephaly Hydrocephalus Short nose Microphthalmia Upslanted palpebral fissure Coloboma Astigmatism Hypotelorism Mild short stature Exotropia Holoprosencephaly Absent thumb Abnormality of digit Facial cleft Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Exencephaly Thickened helices Poor suck Ventricular septal defect Hypertrophic cardiomyopathy Kyphosis Joint hyperflexibility Abnormal form of the vertebral bodies Bowing of the long bones Disproportionate short stature Sprengel anomaly Beaking of vertebral bodies Ovoid vertebral bodies Vertebral wedging Acromesomelia Dry skin Hyperpigmentation of the skin Thick lower lip vermilion Cafe-au-lait spot Cubitus valgus Abnormality of the sternum Curly hair Multiple lentigines Feeding difficulties Atrial septal defect Pectus carinatum Pulmonic stenosis Micrognathia Abnormality of the kidney Short metatarsal Telecanthus Scapular winging Spina bifida occulta Slender long bone Short 5th finger Increased vertebral height Respiratory insufficiency Respiratory distress Polydactyly High forehead Cleft lip Pointed chin Carious teeth Narrow chest Short distal phalanx of finger Postaxial polydactyly Full cheeks Short metacarpal Limb undergrowth Short phalanx of finger Sandal gap Widely spaced teeth Coxa vara Decreased testicular size Craniosynostosis Intrauterine growth retardation Sparse hair Hematuria Ectodermal dysplasia Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyelashes Nephritis Hypoplastic toenails Tubulointerstitial nephritis Posterior fossa cyst Long philtrum Triangular face Malar flattening Hypospadias Pectus excavatum Delayed skeletal maturation Clinodactyly of the 5th finger Severe short stature Pes planus Small for gestational age Joint hypermobility Thick eyebrow Nonketotic hyperglycinemia


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