Abnormal facial shape, and Areflexia

Diseases related with Abnormal facial shape and Areflexia

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


Top matches:

Low match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Low match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Low match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

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Other less relevant matches:

Low match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Low match ALKALINE CERAMIDASE 3 DEFICIENCY


ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency|acer3-related early childhood-onset progressive leukodystrophy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALKALINE CERAMIDASE 3 DEFICIENCY

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Low match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Dysarthria Microcephaly High palate Short stature Low-set ears

Rare Symptoms - Less than 30% cases


Feeding difficulties Muscle weakness Full cheeks Downslanted palpebral fissures Gait ataxia Short neck Pain Smooth philtrum Delayed speech and language development Prominent nose Cataract Muscular hypotonia Skeletal muscle atrophy Tremor Gait disturbance Spastic paraplegia Limb muscle weakness Paraplegia Spastic gait Facial asymmetry Aspiration Hypoplasia of the corpus callosum Cerebral atrophy Spasticity Unsteady gait Micrognathia Decreased fetal movement Hepatomegaly High forehead Epiphyseal stippling Generalized neonatal hypotonia Growth delay Hypertelorism Flexion contracture Round face Neoplasm Sensory neuropathy Hyporeflexia Elevated serum creatine phosphokinase Pneumonia Difficulty walking Proximal muscle weakness Myalgia Muscular dystrophy Infertility Asymmetry of the thorax Neurodegeneration Ataxia Muscle cramps Asymmetric growth Abnormal cerebellum morphology Type II diabetes mellitus Abnormality of cardiovascular system morphology Intellectual disability, mild Intention tremor Abnormality of the dentition Progressive muscle weakness Dysphagia Right aortic arch Fasciculations Ventricular septal defect Dental crowding Inguinal hernia Low anterior hairline Mild short stature Broad neck Hypomimic face Central apnea Hemifacial hypertrophy Epicanthus Leiomyosarcoma Perimembranous ventricular septal defect Atrial septal defect Congestive heart failure Broad forehead Severe global developmental delay Carcinoma Pulmonic stenosis Embryonal neoplasm Secundum atrial septal defect Hepatoblastoma Gynecomastia Hyperlipidemia Scoliosis Limb tremor Bulbar signs Distal lower limb amyotrophy Oligospermia Kinetic tremor Testicular atrophy Multiple lipomas Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Overgrowth Dysmetria Neurofibromas Skeletal muscle hypertrophy Nephroblastoma Motor neuron atrophy Exercise-induced muscle cramps Bicuspid aortic valve Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Impaired pain sensation Aspiration pneumonia Hydrocephalus Spinal muscular atrophy Cryptorchidism Adrenocortical adenoma Pheochromocytoma Hernia Limb-girdle muscular dystrophy Hemihypertrophy Communicating hydrocephalus Myelomeningocele Increased circulating cortisol level Calf muscle hypertrophy Hand tremor Amyotrophic lateral sclerosis Impotence Decreased fertility Bulbar palsy Muscle fibrillation Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Dysphonia Impaired continence Respiratory tract infection Abnormal heart morphology Hirsutism Lymphedema Lissencephaly Centrally nucleated skeletal muscle fibers Hand clenching Agyria Failure to thrive Strabismus Long philtrum Constipation Respiratory failure Upslanted palpebral fissure Thin upper lip vermilion Joint laxity Abnormal cardiac septum morphology Abnormality of the foot Poor speech Distal sensory impairment Wide nose Triangular face Sensory impairment Arthrogryposis multiplex congenita Agenesis of corpus callosum Decreased nerve conduction velocity Dolichocephaly Wide nasal bridge Dilatation Feeding difficulties in infancy Flat face Bradycardia Polycystic kidney dysplasia Polyhydramnios Neonatal hypotonia Camptodactyly Small for gestational age Arachnodactyly Cerebellar hypoplasia High, narrow palate Single transverse palmar crease Joint contracture of the hand Respiratory insufficiency due to muscle weakness Poor suck Akinesia Scaphocephaly Fetal akinesia sequence Overlapping fingers Oval face Broad-based gait Failure to thrive in infancy Apnea Thick eyebrow Pseudobulbar paralysis Pollakisuria Hyperreflexia in upper limbs Impaired vibration sensation at ankles Macrocephaly Dystonia Coarse facial features Muscular hypotonia of the trunk Developmental regression Sloping forehead Urinary retention Optic disc pallor Thick lower lip vermilion Leukodystrophy Relative macrocephaly Developmental stagnation Neurogenic bladder Cerebellar atrophy Recurrent respiratory infections Brachycephaly Gastroesophageal reflux Primitive reflex Absent Achilles reflex Decreased number of peripheral myelinated nerve fibers Kyphoscoliosis Onion bulb formation Delayed ability to walk Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Motor delay Hyperreflexia Absent speech Babinski sign Cerebral cortical atrophy Abnormality of the cerebral white matter Corpus callosum atrophy Tetraplegia Urinary incontinence Foot dorsiflexor weakness Postural tremor Impaired vibratory sensation Toe walking Lower limb hyperreflexia Abnormality of the periventricular white matter Loss of speech Mild microcephaly Hemiareflexia



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