Abnormal facial shape, and Kyphosis

Diseases related with Abnormal facial shape and Kyphosis

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low 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

Low 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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

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Other less relevant matches:

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

Low match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Low match OSTEOGENESIS IMPERFECTA, TYPE XI; OI11


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 XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 Is also known as oi, type xi

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Abnormality of the dentition
  • Brachycephaly


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XI; OI11

Low match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Kyphosis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, mild Prominent forehead Coarse facial features Delayed speech and language development Generalized hypotonia

Rare Symptoms - Less than 30% cases


Respiratory distress Long face Wide nasal bridge Narrow chest Flexion contracture Osteopenia Narrow face Triangular face Hearing impairment Short neck Pectus excavatum Cataract Intellectual disability, severe Long foot Frontal bossing Thick lower lip vermilion Thick vermilion border Coxa vara Macrocephaly Hypertelorism Calf muscle hypertrophy Blurred vision Myotonia Nausea Joint laxity Muscle stiffness Diplopia Clumsiness Choreoathetosis Abnormality of the skin Specific learning disability Muscle cramps Postural instability Headache Vertigo Hyperhidrosis Blue sclerae Hypertonia Cerebellar atrophy Dysarthria Vertebral wedging Protrusio acetabuli Biconcave vertebral bodies Dentinogenesis imperfecta Wormian bones Vertebral compression fractures Myokymia Increased susceptibility to fractures Elevated alkaline phosphatase Poor coordination Broad forehead Hand clenching Depressed nasal ridge Synophrys Joint hypermobility Thick eyebrow Hirsutism Macroglossia Underdeveloped nasal alae Small nail Hypertrichosis Sensorineural hearing impairment Long eyelashes Gingival overgrowth Deep philtrum Anonychia Widow's peak Bifid nasal tip Broad eyebrow Upslanted palpebral fissure Global developmental delay Tip-toe gait Hyperlordosis Craniofacial disproportion Nystagmus Cleft palate Myopia Talipes equinovarus Glaucoma Skeletal dysplasia Abnormality of the dentition Short thorax Platyspondyly Micromelia Flat face Retinal detachment Limitation of joint mobility Osteoarthritis Abnormality of epiphysis morphology Brachycephaly Movement abnormality of the tongue Capillary hemangioma Depressivity Pes planus Protruding ear Tall stature Pointed chin Cupped ear Hypertension Osteoporosis Cryptorchidism Anxiety Mental deterioration Bruising susceptibility Round face Psychosis Thin skin Macrotia Muscular hypotonia Truncal obesity Mandibular prognathia Abnormality of the skeletal system Intellectual disability, moderate Small for gestational age Broad nasal tip Dental crowding High palate Pectus carinatum Slender build Prominent nasal bridge Arachnodactyly Hypoplasia of the maxilla Growth abnormality Nasal speech Abnormality of the sternum Abnormality of the musculature Agitation Striae distensae Thoracic kyphosis Sunken cheeks Blepharospasm Laryngeal dystonia Torsion dystonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Seizures Limb dystonia Coloboma Bulbous nose Iris coloboma Elbow flexion contracture Knee flexion contracture Intellectual disability, progressive Hemangioma Generalized dystonia Toe walking Increased circulating cortisol level Gait disturbance Adrenal hyperplasia Decreased circulating ACTH level Mood changes Pigmented micronodular adrenocortical disease Primary hypercortisolism Paradoxical increased cortisol secretion on dexamethasone suppression test Dysphagia Dysdiadochokinesis Dystonia Dementia Gait ataxia Open mouth Involuntary movements Torticollis Dysphonia Prominent nasal septum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Immunodeficiency and Erythema, related diseases and genetic alterations Peripheral neuropathy and Hypertrophic cardiomyopathy, related diseases and genetic alterations Muscle weakness and Upslanted palpebral fissure, related diseases and genetic alterations Hypertelorism and Coloboma, related diseases and genetic alterations Abnormal facial shape and Nephrolithiasis, related diseases and genetic alterations

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