Frontal bossing, and Spina bifida

Diseases related with Frontal bossing and Spina bifida

In the following list you will find some of the most common rare diseases related to Frontal bossing and Spina bifida that can help you solving undiagnosed cases.

Top matches:

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

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Other less relevant matches:

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

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

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Top 5 symptoms//phenotypes associated to Frontal bossing and Spina bifida

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Brachydactyly Cleft palate Epicanthus Malar flattening Hypospadias High palate Short neck Spina bifida occulta Seizures Low-set ears Anteverted nares Scoliosis Generalized hypotonia Muscular hypotonia Wide nasal bridge Broad forehead Abnormality of epiphysis morphology Skeletal dysplasia Molar tooth sign on MRI Microcephaly Radial deviation of finger Polycystic kidney dysplasia Midface retrusion Abnormality of the dentition Abnormal cerebellum morphology Cleft lip Postaxial polydactyly Dilatation Long philtrum Abnormality of the kidney Failure to thrive Hip dislocation Abnormal facial shape Low-set, posteriorly rotated ears Growth delay Short ribs Clinodactyly Pes planus Mandibular prognathia Severe short stature Clinodactyly of the 5th finger Hernia

Rare Symptoms - Less than 30% cases

Alopecia Meningocele Polydactyly Agenesis of corpus callosum Short long bone Abnormal heart morphology Syndactyly Delayed skeletal maturation Joint dislocation Downslanted palpebral fissures Joint laxity Joint hyperflexibility Micromelia Abnormality of the metaphysis Enlarged thorax Congenital hip dislocation Tremor Pectus excavatum Oral cleft Atrial septal defect Broad nasal tip Supernumerary nipple Talipes Micropenis Talipes equinovarus Cryptorchidism Flared metaphysis Epiphyseal dysplasia Intrauterine growth retardation Congenital cataract Kyphoscoliosis Intellectual disability, severe Flexion contracture Tachypnea Absent speech Cataract Abnormality of the skeletal system Apnea Hypothalamic hamartoma Tongue nodules Lobulated tongue Dandy-Walker malformation Short nose Renal dysplasia Myelomeningocele Oculomotor apraxia Cerebellar vermis hypoplasia Renal insufficiency Kyphosis Slender long bone Thick eyebrow Triangular face Decreased testicular size Pointed chin Increased number of teeth Coxa vara Scapular winging Abnormality of dental enamel Short thorax Short 5th finger Joint hypermobility Hypoplastic pelvis Increased vertebral height Hearing impairment Delayed eruption of teeth Macrocephaly Recurrent respiratory infections Osteoporosis Hydrocephalus Genu valgum Abnormal sacrum morphology Carious teeth Hyperlordosis Respiratory distress Dolichocephaly Small for gestational age Nail dysplasia Abnormal calcification of the carpal bones Slender proximal phalanx of finger Genu varum Caudal interpedicular narrowing Slender distal phalanx of finger Long distal phalanx of finger Long proximal phalanx of finger Delayed phalangeal epiphyseal ossification Osteoarthritis Ataxia Nystagmus Thoracolumbar scoliosis Fever Streaky metaphyseal sclerosis Wide nose Gait disturbance Platyspondyly Elevated serum creatine phosphokinase Intellectual disability, mild Muscle weakness Inguinal hernia Posteriorly rotated ears Abnormality of the 5th metacarpal Conductive hearing impairment Abnormality of the nervous system Neurocytoma Stridor Delayed patellar ossification Delayed epiphyseal ossification Thoracolumbar kyphosis Generalized joint laxity Soft skin Upper airway obstruction Irregular vertebral endplates Spondyloepimetaphyseal dysplasia Generalized osteoporosis Small epiphyses Irregular epiphyses Hypoplasia of the capital femoral epiphysis Tracheomalacia Thoracic scoliosis Carpal bone hypoplasia Broad distal phalanx of finger Flat capital femoral epiphysis Narrow femoral neck Spinal dysraphism Inspiratory stridor Feeding difficulties in infancy Abnormal bone ossification Laryngotracheomalacia Dislocated radial head Narrow vertebral interpedicular distance Large joint dislocations Abnormality of the patella Abnormal joint morphology Posterior scalloping of vertebral bodies Metaphyseal irregularity Slender metacarpals Laryngeal stenosis Early ossification of capital femoral epiphyses Prominent nasal bridge Chronic lung disease Hypoplasia of olfactory tract Bulimia Episodic tachypnea Mesoaxial polydactyly Hamartoma of tongue Abnormal oral frenulum morphology Enlarged cisterna magna Dilation of lateral ventricles Occipital meningocele Redundant neck skin Accessory oral frenulum Hemoglobin H Preaxial foot polydactyly Colpocephaly Abnormality of the basal ganglia Abnormal corpus callosum morphology Mesoaxial hand polydactyly Y-shaped metacarpals Long clavicles Cerebellar hypoplasia Increased intracranial pressure Wide intermamillary distance Retinal dystrophy Cone-shaped epiphysis Overfolded helix Elevated hepatic transaminase Gastroesophageal reflux Visual loss Midline notch of upper alveolar ridge Ventriculomegaly Thoracic hypoplasia Myopia Absent septum pellucidum Occipital encephalocele Bell-shaped thorax Feeding difficulties Central Y-shaped metacarpal Hyperechogenic kidneys Short femur Twelfth rib hypoplasia Open operculum Preaxial polydactyly Renal hypoplasia/aplasia Rhizomelic arm shortening Aplasia/Hypoplasia of the corpus callosum Small cervical vertebral bodies Finger clinodactyly Subretinal deposits Apraxia Cervical spinal canal stenosis Rhizomelic leg shortening Renal agenesis Esotropia Highly arched eyebrow Long face Cleft upper lip Toe syndactyly Dilated third ventricle Dysgenesis of the cerebellar vermis Recurrent aspiration pneumonia Biparietal narrowing Abnormality of the optic disc Duane anomaly Renal cortical cysts Foot polydactyly Short digit Elongated superior cerebellar peduncle Hamartoma Partial agenesis of the corpus callosum Hand polydactyly Proximal femoral metaphyseal irregularity Tibial bowing Abnormality of the acetabulum Abnormal retinal morphology Abnormality of neuronal migration Preaxial hand polydactyly Bilateral cryptorchidism Trigonocephaly Triangular nasal tip Polymicrogyria Reduced alpha/beta synthesis ratio Decreased fertility Horizontal ribs Hypoplastic ischia Abnormality of the cerebral vasculature Abnormality of the elbow Thin ribs Disproportionate short stature Mild short stature Hypertension Hypoplasia of the ulna Rocker bottom foot Neonatal respiratory distress Narrow face Thick lower lip vermilion Everted lower lip vermilion Thick vermilion border Hypoplastic pubic bone Dysarthria Confusion Hypoplasia of dental enamel Nephronophthisis Agenesis of permanent teeth Milia Cutaneous syndactyly Microretrognathia Hepatic fibrosis Underdeveloped nasal alae Depressivity Bifid uvula Stage 5 chronic kidney disease Facial asymmetry Abnormality of the cerebral white matter Sparse hair Telecanthus Proteinuria Bulbous nose Protruding ear Median cleft lip Sinusitis Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Sleep apnea Hemivertebrae Wormian bones Large fontanelles Short clavicles Abnormality of the ribs Sloping forehead Recurrent fractures Tapered finger High, narrow palate Narrow chest Brachycephaly Open bite Sprengel anomaly Postnatal growth retardation Dimple chin Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormality of the thumb Glossoptosis Dystrophic fingernails Dystrophic toenail Decreased skull ossification Hypoplastic scapulae Down-sloping shoulders Hypoplasia of the zygomatic bone Hearing abnormality Atrioventricular canal defect Arachnoid cyst Flat forehead Fatigue Pectus carinatum Intellectual disability, moderate Retrognathia High forehead Patent ductus arteriosus Obesity Anemia Neurological speech impairment Ptosis Neoplasm Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Multiple epiphyseal dysplasia Microtia Bruising susceptibility Concave nasal ridge Protruding tongue Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Underdeveloped supraorbital ridges Macroglossia Microcytic anemia Aplasia/Hypoplasia of the eyebrow Short toe Dental crowding Abnormality of the genital system Webbed neck Delayed CNS myelination Polysplenia Abnormal cortical gyration Narrow naris Sensorineural hearing impairment Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Deviation of finger Spasticity Pancreatic cysts Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Bifid tongue Pain Respiratory insufficiency Severe failure to thrive Short distal phalanx of finger Epiphyseal stippling Sparse body hair Congenital contracture Rhizomelia Congenital diaphragmatic hernia Limb undergrowth Limitation of joint mobility Pulmonary hypoplasia Abnormality of metabolism/homeostasis Flat face Ichthyosis Dry skin Pulmonic stenosis Severe global developmental delay Cerebral cortical atrophy Upslanted palpebral fissure Aplasia/Hypoplasia involving bones of the thorax


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