Frontal bossing, and Prominent forehead
Diseases related with Frontal bossing and Prominent forehead
In the following list you will find some of the most common rare diseases related to Frontal bossing and Prominent forehead that can help you solving undiagnosed cases.
Top matches:
High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
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
More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
High match MENTAL RETARDATION, X-LINKED 93; MRX93
MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly
Related symptoms:
- Intellectual disability
- Generalized hypotonia
- Muscular hypotonia
- Cryptorchidism
- Delayed speech and language development
More info about MENTAL RETARDATION, X-LINKED 93; MRX93
High match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME
Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome
Related symptoms:
- Short stature
- Growth delay
- Brachydactyly
- Frontal bossing
- Talipes equinovarus
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME
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Other less relevant matches:
High match FG SYNDROME 2; FGS2
Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Generalized hypotonia
- Hypertelorism
- Failure to thrive
More info about FG SYNDROME 2; FGS2
High match AICA-RIBOSIDURIA
AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Generalized hypotonia
- Muscular hypotonia
- Low-set ears
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about AICA-RIBOSIDURIAHigh match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
Related symptoms:
- Intellectual disability
- Scoliosis
- High palate
- Macrocephaly
- Frontal bossing
More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- High palate
SOURCES: ORPHANET OMIM MENDELIAN
More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROMEHigh match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF
Related symptoms:
- Global developmental delay
- Short stature
- Generalized hypotonia
- Cryptorchidism
- Low-set ears
More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF
High match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
Related symptoms:
- Failure to thrive
- Strabismus
- Anemia
- Feeding difficulties
- Hepatomegaly
More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia
Related symptoms:
- Brachydactyly
- Frontal bossing
- Short nose
- Severe short stature
- Prominent forehead
More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
Top 5 symptoms//phenotypes associated to Frontal bossing and Prominent forehead
| Symptoms // Phenotype | % cases |
|---|---|
| Macrocephaly | Common - Between 50% and 80% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Triangular face | Uncommon - Between 30% and 50% cases |
| Brachydactyly | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Frontal bossing and Prominent forehead. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Kyphosis Delayed speech and language development Seizures
Rare Symptoms - Less than 30% cases
Relative macrocephaly Short stature Atrial septal defect Hepatosplenomegaly Failure to thrive Scoliosis Low-set ears Optic atrophy Long face Prominent nasal bridge High palate Mandibular prognathia Growth abnormality Feeding difficulties Finger clinodactyly Global developmental delay Intellectual disability, severe Retrognathia Protruding ear Intellectual disability, mild Ovoid vertebral bodies Pes planus Disproportionate short stature Acromesomelia Muscular hypotonia Cryptorchidism Beaking of vertebral bodies Pectus excavatum Small hand Aggressive behavior Hepatomegaly Craniosynostosis Anemia Strabismus Penoscrotal hypospadias Unilateral cryptorchidism Broad nasal tip Melanocytic nevus Pterygium Decreased body weight Ambiguous genitalia Stereotypy Thoracolumbar interpediculate narrowness Lower thoracic kyphosis Broad finger Recurrent pneumonia Broad metatarsal Short nail Delayed skeletal maturation Patent ductus arteriosus Hypospadias Motor delay Broad phalanx Broad metacarpals Flexion contracture Scaphocephaly Microretrognathia Feeding difficulties in infancy Hydrocephalus Gait disturbance Skeletal dysplasia Thoracolumbar kyphosis Radial bowing Cone-shaped epiphyses of the phalanges of the hand Limited elbow extension Flared metaphysis Short metatarsal Hypoplasia of the radius Short toe Short phalanx of finger Lumbar hyperlordosis Short metacarpal Falls Joint laxity Severe short stature Hypoplasia of the corpus callosum Short nose Increased density of long bones Uncontrolled eye movements Osteopetrosis Short femoral neck Leukopenia Short chin Brain atrophy Irritability Facial palsy Thrombocytopenia Long hallux Splenomegaly Vomiting Increased head circumference Narrow chest Anxiety Midface retrusion Abnormal facial shape Hypertelorism Unilateral ulnar hypoplasia Postaxial oligodactyly Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Fibular hypoplasia Bilateral talipes equinovarus Hemangioma Round face Short foot Toe syndactyly Malar flattening Constipation Talipes equinovarus Growth delay Cupped ear Pointed chin Tall stature Macrotia Vertebral wedging Sprengel anomaly Bowing of the long bones Abnormal form of the vertebral bodies Joint hyperflexibility Dolichocephaly Joint stiffness Hyperlordosis Abnormal heart morphology Hyperactivity Pneumonia Fused labia minora Clinodactyly of the 5th finger Clinodactyly Downslanted palpebral fissures Wide nasal bridge Slender build Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Narrow face Hypoplasia of the maxilla Arachnodactyly Depressed nasal bridge Pectus carinatum Congenital blindness Neonatal hypotonia Clitoral hypertrophy Intellectual disability, profound Abnormality of the skin Wide mouth Thin upper lip vermilion Brachycephaly Abnormality of metabolism/homeostasis Blindness Anteverted nares Underdeveloped superior crus of antihelix Frontal upsweep of hair Large forehead Anteriorly placed anus Abnormality of the pinna Redundant skin on fingers
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