Abnormal facial shape, and Pectus carinatum

Diseases related with Abnormal facial shape and Pectus carinatum

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Pectus carinatum that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Medium match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Medium match NOONAN SYNDROME 7; NS7


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

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Other less relevant matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Medium match BRUCK SYNDROME


Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRUCK SYNDROME

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Medium match PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY


PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Pectus carinatum

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Pectus carinatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short neck Pes planus Generalized hypotonia Hyperlordosis High palate Hypertelorism Pectus excavatum Low-set ears Platyspondyly Genu valgum Global developmental delay Malar flattening Motor delay Hypertonia Flexion contracture Prominent forehead

Rare Symptoms - Less than 30% cases


Joint stiffness Microcephaly Seizures Feeding difficulties Dysphagia Postnatal microcephaly Thick vermilion border Lumbar hyperlordosis Narrow forehead Inguinal hernia Brain atrophy Respiratory insufficiency Knee flexion contracture Pain Triangular face Arthrogryposis multiplex congenita Failure to thrive Myopia Arthralgia Coarse facial features Absent speech Spasticity Joint laxity Intellectual disability, mild Long face Narrow face Frontal bossing Macrocephaly Hearing impairment Depressed nasal bridge Recurrent fractures Mandibular prognathia Osteopenia Wormian bones Osteoporosis Arachnodactyly Increased susceptibility to fractures Narrow chest Micrognathia Slender build Mixed hearing impairment Respiratory distress Muscular hypotonia Muscle weakness Myopathy Respiratory failure Congestive heart failure Pes cavus Global brain atrophy Dyspnea Retrognathia Proximal muscle weakness Facial palsy Distal muscle weakness Muscular dystrophy Long toe Progressive microcephaly Overfolded helix Cerebral cortical atrophy Skeletal muscle atrophy Downslanted palpebral fissures Anteverted nares Hypoplasia of the corpus callosum Short nose Long philtrum Intellectual disability, severe Babinski sign Upslanted palpebral fissure Muscular hypotonia of the trunk CNS hypomyelination Abnormality of the pinna Generalized tonic-clonic seizures Smooth philtrum Thin vermilion border Bulbous nose Inability to walk Generalized muscle weakness Leukodystrophy Mutism Falls Progressive muscle weakness Sensory impairment Autistic behavior Behavioral abnormality Constipation Hyperactivity Gait ataxia Autism Gastroesophageal reflux Anxiety Aggressive behavior Developmental regression Wide mouth Epicanthus Attention deficit hyperactivity disorder Short philtrum Abnormal cerebellum morphology Underdeveloped nasal alae Hypotelorism Short palpebral fissure Thick lower lip vermilion Stereotypy Self-injurious behavior Gait disturbance Ataxia Waddling gait Myopathic facies Decreased fetal movement Open mouth Frequent falls Muscle stiffness Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Easy fatigability Congenital muscular dystrophy Increased variability in muscle fiber diameter Decreased muscle mass Shoulder girdle muscle atrophy Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Difficulty running Neck muscle weakness Thoracic kyphosis Facial diplegia Nemaline bodies Distal lower limb amyotrophy Distal lower limb muscle weakness Myokymia Hyperreflexia Atlantoaxial instability Prominent nasal bridge Enlarged joints Narrow mouth Osteoarthritis Abnormality of epiphysis morphology Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Abnormality of cardiovascular system morphology Finger syndactyly Midface retrusion Sensorineural hearing impairment Long foot Abnormality of the musculature Cardiomegaly Aortic valve stenosis Opacification of the corneal stroma Aortic regurgitation Abnormality of the hand Hip dislocation Polyhydramnios Dysostosis multiplex Atrial septal defect Dentinogenesis imperfecta Thoracic platyspondyly Prominent supraorbital ridges Progressive hearing impairment Cognitive impairment Increased bone mineral density Delayed eruption of teeth Facial asymmetry Dolichocephaly Agenesis of corpus callosum Pulmonic stenosis Webbed neck Protruding ear Hyperpigmentation of the skin Poor suck Mild short stature Thickened helices Obesity Clinodactyly Spondyloepiphyseal dysplasia Flared iliac wings Nystagmus Disproportionate short-trunk short stature Short phalanx of finger Rhizomelia Short metatarsal Metaphyseal irregularity Limited elbow extension Hypoplasia of the odontoid process Barrel-shaped chest Hypoplastic pelvis Myelopathy Limb undergrowth Broad femoral neck Thoracolumbar kyphosis Flattened epiphysis Broad phalanx Broad metatarsal Arthralgia of the hip Generalized osteoporosis Small forehead Flattened femoral head Decreased body weight Short metacarpal Abnormality of the rib cage Elbow flexion contracture Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Talipes equinovarus Abnormality of the sternum Hernia Nasal speech Growth abnormality Bowing of the long bones Pterygium Limitation of joint mobility Bilateral talipes equinovarus Femoral bowing Hydroxyprolinuria Brachydactyly Severe short stature Posteriorly rotated ears Kyphoscoliosis Hypoplasia of the maxilla Small hand Obsessive-compulsive behavior



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