Cleft palate, and Micromelia

Diseases related with Cleft palate and Micromelia

In the following list you will find some of the most common rare diseases related to Cleft palate and Micromelia that can help you solving undiagnosed cases.

Top matches:

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

Medium match HYDROLETHALUS

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Other less relevant matches:

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Micromelia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Narrow chest Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cleft palate and Micromelia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Scoliosis Severe short stature Hearing impairment Pulmonary hypoplasia Micropenis Brachydactyly Sensorineural hearing impairment Hypoplastic scapulae Low-set ears Macrocephaly Depressed nasal bridge Hydrocephalus Platyspondyly Kyphosis Short neck Talipes equinovarus

Rare Symptoms - Less than 30% cases

Postaxial hand polydactyly Respiratory insufficiency Abnormality of cardiovascular system morphology Agenesis of corpus callosum Cleft upper lip Oral cleft Polyhydramnios Deeply set eye Abnormality of the skeletal system Abnormal facial shape Adrenal hypoplasia Global developmental delay Wide nasal bridge Hypospadias Short nose Sandal gap Short ribs Cleft lip Short stature Short long bone Dumbbell-shaped long bone Hypertelorism Disproportionate short-limb short stature Flat face Cataract Thoracic hypoplasia Flat acetabular roof Abnormality of the metaphysis Hyperlordosis Frontal bossing Premature birth Hypothalamic hamartoma Occipital encephalocele Median cleft lip Hamartoma Talipes Microglossia Respiratory failure Anterior hypopituitarism Lumbar hyperlordosis Hip dislocation Patent foramen ovale Short sacroiliac notch Aplasia/hypoplasia of the extremities Mesomelic short stature Laryngeal stenosis Cervical kyphosis Coronal cleft vertebrae Tracheobronchomalacia Upper limb undergrowth Renal dysplasia Horizontal sacrum Dumbbell-shaped femur Neoplasm Hypoplasia of the ulna Short middle phalanx of finger Abnormal heart morphology Glioma Diaphyseal thickening Edema Abnormality of the genital system Prominent forehead Hypogonadism Hydronephrosis Postnatal growth retardation Respiratory tract infection Craniosynostosis Muscular dystrophy Growth hormone deficiency Bilateral sensorineural hearing impairment Hypocalcemia Intrauterine growth retardation Nephrocalcinosis Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Metaphyseal cupping Delayed skeletal maturation Muscular hypotonia Dolichocephaly Hypoplastic ilia Abnormal form of the vertebral bodies Lymphedema Spontaneous abortion Abnormality of the fingernails Accelerated skeletal maturation Metaphyseal irregularity Hypoplastic toenails Fibular hypoplasia Ovoid vertebral bodies Lateral clavicle hook Growth delay Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Snail-like ilia Abnormality of metabolism/homeostasis Shield chest Anisospondyly Arrhinencephaly Bifid uvula Laryngomalacia Anophthalmia Absent septum pellucidum Submucous cleft hard palate Anencephaly Abnormality of the respiratory system Unilateral cleft lip Retrognathia Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Gingival cleft Intellectual disability Dysphagia Blindness Low-set, posteriorly rotated ears Microphthalmia Intellectual disability, mild Abnormality of epiphysis morphology Nystagmus Myopia Glaucoma Broad forehead Retinal detachment Limitation of joint mobility Osteoarthritis Coxa vara Upper airway obstruction Short thorax Proptosis High myopia Rhizomelia Metaphyseal widening Femoral bowing Glossoptosis Short femur Dystonia Immunodeficiency Neonatal short-limb short stature Narrow mouth Barrel-shaped chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Atrial septal defect Inguinal hernia Posteriorly rotated ears Umbilical hernia Scrotal hypoplasia Joint stiffness Overgrowth Blue sclerae Depressed nasal ridge Bowing of the long bones Abnormality of pelvic girdle bone morphology Calvarial skull defect Abnormality of the abdominal wall Depressed nasal tip Aplasia/Hypoplasia of the corpus callosum High forehead Bulbar signs Kyphoscoliosis Mental deterioration Small for gestational age Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Achalasia Holoprosencephaly Externally rotated hips Ventriculomegaly Syndactyly Polydactyly Abnormality of the pinna Postaxial polydactyly Wide intermamillary distance Ambiguous genitalia Congenital adrenal hypoplasia


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